#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADH6	130	genome.wustl.edu	37	4	100137074	100137074	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:100137074C>T	ENST00000237653.7	-	2	505				RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Intron|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Intron	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ataattaGTACAATAGCTGTA	0.299																																																	0																																										SO:0001627	intron_variant	130			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.120+243G>A	4.37:g.100137074C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KS45|Q58F53	RNA	SNP	-	NULL	ENST00000237653.7	37	NULL	CCDS3647.1	4																																																																																			ADH6	-	-		0.299	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	C	NM_000672		100137074	-1	no_errors	ENST00000513262	ensembl	human	putative	70_37	rna	SNP	0.001	T
ANKDD1A	348094	genome.wustl.edu	37	15	65212091	65212091	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:65212091C>T	ENST00000380230.3	+	4	296				ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395723.1_5'Flank|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000395720.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000496660.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A						signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ttgtctgcaccacccgcctcc	0.557																																																	0																																										SO:0001627	intron_variant	348094				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.268-2029C>T	15.37:g.65212091C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q495B2|Q495B3|Q8N7A0|Q8NBS5	RNA	SNP	-	NULL	ENST00000380230.3	37	NULL	CCDS10197.2	15																																																																																			ANKDD1A	-	-		0.557	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2	C	NM_182703		65212091	+1	no_errors	ENST00000491145	ensembl	human	known	70_37	rna	SNP	0.000	T
AOX1	316	genome.wustl.edu	37	2	201507422	201507422	+	Silent	SNP	A	A	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:201507422A>C	ENST00000374700.2	+	25	2986	c.2745A>C	c.(2743-2745)ccA>ccC	p.P915P	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	915					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCAACCTTCCATCCAACACAG	0.498																																																	0													90.0	83.0	86.0					2																	201507422		2203	4300	6503	SO:0001819	synonymous_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2745A>C	2.37:g.201507422A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.P915	ENST00000374700.2	37	c.2745	CCDS33360.1	2																																																																																			AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.498	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	A	NM_001159		201507422	+1	no_errors	ENST00000374700	ensembl	human	known	70_37	silent	SNP	0.048	C
AOX1	316	genome.wustl.edu	37	2	201507422	201507422	+	Silent	SNP	A	A	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:201507422A>C	ENST00000374700.2	+	25	2986	c.2745A>C	c.(2743-2745)ccA>ccC	p.P915P	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	915					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCAACCTTCCATCCAACACAG	0.498																																																	0													90.0	83.0	86.0					2																	201507422		2203	4300	6503	SO:0001819	synonymous_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2745A>C	2.37:g.201507422A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.P915	ENST00000374700.2	37	c.2745	CCDS33360.1	2																																																																																			AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.498	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	A	NM_001159		201507422	+1	no_errors	ENST00000374700	ensembl	human	known	70_37	silent	SNP	0.048	C
APOC3	345	genome.wustl.edu	37	11	116701771	116701771	+	Intron	SNP	G	G	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:116701771G>T	ENST00000227667.3	+	3	241				APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000375345.1_Intron	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III						cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCTTTGTCAGGCTGCTGCGGG	0.602																																					GBM(81;259 1650 7161 35190)												0																																										SO:0001627	intron_variant	345			X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.179+159G>T	11.37:g.116701771G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08E83|Q6Q786	RNA	SNP	-	NULL	ENST00000227667.3	37	NULL	CCDS8377.1	11																																																																																			APOC3	-	-		0.602	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC3	HGNC	protein_coding	OTTHUMT00000106284.2	G	NM_000040		116701771	+1	no_errors	ENST00000470144	ensembl	human	known	70_37	rna	SNP	0.000	T
ARID1A	8289	genome.wustl.edu	37	1	27106648	27106648	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:27106648G>A	ENST00000324856.7	+	20	6630	c.6259G>A	c.(6259-6261)Gga>Aga	p.G2087R	ARID1A_ENST00000457599.2_Missense_Mutation_p.G1870R|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1704R|ARID1A_ENST00000540690.1_Missense_Mutation_p.G415R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2087			G -> R (found in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:22009941}.		androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G2087R(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCCTGGACGGACTCCTACA	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	breast(1)											89.0	88.0	88.0					1																	27106648		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6259G>A	1.37:g.27106648G>A	ENSP00000320485:p.Gly2087Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G2087R	ENST00000324856.7	37	c.6259	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.30|18.30	3.594610|3.594610	0.66219|0.66219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.051909|.	0.85682|.	N|.	0.000000|.	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.83271|0.83271	-0.0043|-0.0043	10|5	0.87932|.	D|.	0|.	-4.2604|-4.2604	19.0485|19.0485	0.93032|0.93032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1704;2087;1870|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	R|Q	2087;1870;1704;415|983	ENSP00000320485:G2087R;ENSP00000387636:G1870R;ENSP00000363267:G1704R;ENSP00000442437:G415R|.	ENSP00000320485:G2087R|.	G|R	+|+	1|2	0|0	ARID1A|ARID1A	26979235|26979235	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	9.413000|9.413000	0.97351|0.97351	2.814000|2.814000	0.96858|0.96858	0.585000|0.585000	0.79938|0.79938	GGA|CGG	ARID1A	-	pfam_DUF3518		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27106648	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	A
ARID1A	8289	genome.wustl.edu	37	1	27106648	27106648	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:27106648G>A	ENST00000324856.7	+	20	6630	c.6259G>A	c.(6259-6261)Gga>Aga	p.G2087R	ARID1A_ENST00000457599.2_Missense_Mutation_p.G1870R|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1704R|ARID1A_ENST00000540690.1_Missense_Mutation_p.G415R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2087			G -> R (found in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:22009941}.		androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G2087R(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCCTGGACGGACTCCTACA	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	breast(1)											89.0	88.0	88.0					1																	27106648		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6259G>A	1.37:g.27106648G>A	ENSP00000320485:p.Gly2087Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G2087R	ENST00000324856.7	37	c.6259	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.30|18.30	3.594610|3.594610	0.66219|0.66219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.051909|.	0.85682|.	N|.	0.000000|.	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.83271|0.83271	-0.0043|-0.0043	10|5	0.87932|.	D|.	0|.	-4.2604|-4.2604	19.0485|19.0485	0.93032|0.93032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1704;2087;1870|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	R|Q	2087;1870;1704;415|983	ENSP00000320485:G2087R;ENSP00000387636:G1870R;ENSP00000363267:G1704R;ENSP00000442437:G415R|.	ENSP00000320485:G2087R|.	G|R	+|+	1|2	0|0	ARID1A|ARID1A	26979235|26979235	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	9.413000|9.413000	0.97351|0.97351	2.814000|2.814000	0.96858|0.96858	0.585000|0.585000	0.79938|0.79938	GGA|CGG	ARID1A	-	pfam_DUF3518		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27106648	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	A
ATXN10	25814	genome.wustl.edu	37	22	46189627	46189627	+	Intron	SNP	G	G	A	rs575779281		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr22:46189627G>A	ENST00000252934.5	+	10	1438				ATXN10_ENST00000402380.3_Missense_Mutation_p.R32Q|ATXN10_ENST00000381061.4_Intron	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10						cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TGCCACCCCCGATTCCTGCCT	0.552																																																	0													12.0	11.0	11.0					22																	46189627		876	1991	2867	SO:0001627	intron_variant	25814			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1174-13212G>A	22.37:g.46189627G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain	p.R32Q	ENST00000252934.5	37	c.95	CCDS14070.1	22	.	.	.	.	.	.	.	.	.	.	G	2.268	-0.367650	0.05069	.	.	ENSG00000130638	ENST00000402380	.	.	.	0.802	-1.6	0.08426	.	.	.	.	.	T	0.34716	0.0907	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29027	-1.0025	5	0.59425	D	0.04	.	3.488	0.07627	0.4719:0.3158:0.2122:0.0	.	.	.	.	Q	32	.	ENSP00000385624:R32Q	R	+	2	0	ATXN10	44568291	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.264000	0.02847	-2.949000	0.00294	-2.595000	0.00163	CGA	ATXN10	-	NULL		0.552	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	G	NM_013236		46189627	+1	no_errors	ENST00000402380	ensembl	human	putative	70_37	missense	SNP	0.000	A
BOD1L1	259282	genome.wustl.edu	37	4	13600774	13600774	+	Missense_Mutation	SNP	T	T	C	rs555601532|rs533419431		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:13600774T>C	ENST00000040738.5	-	10	7885	c.7750A>G	c.(7750-7752)Atg>Gtg	p.M2584V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2584						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGAGGGATCATTGTGTGGGAA	0.438													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20823	0.0		0.0	False		,,,				2504	0.0																0													151.0	137.0	142.0					4																	13600774		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7750A>G	4.37:g.13600774T>C	ENSP00000040738:p.Met2584Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.M2584V	ENST00000040738.5	37	c.7750	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	6.223	0.409293	0.11812	.	.	ENSG00000038219	ENST00000040738	T	0.06218	3.33	5.1	-10.2	0.00374	.	2.995770	0.01246	N	0.008749	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.27785	T	0.31	.	3.882	0.09082	0.1914:0.1676:0.0871:0.5538	.	2584	Q8NFC6	BOD1L_HUMAN	V	2584	ENSP00000040738:M2584V	ENSP00000040738:M2584V	M	-	1	0	BOD1L	13209872	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.085000	0.11250	-2.402000	0.00577	-1.161000	0.01788	ATG	BOD1L1	-	NULL		0.438	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	T	NM_148894		13600774	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.000	C
BOD1L1	259282	genome.wustl.edu	37	4	13600774	13600774	+	Missense_Mutation	SNP	T	T	C	rs555601532|rs533419431		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:13600774T>C	ENST00000040738.5	-	10	7885	c.7750A>G	c.(7750-7752)Atg>Gtg	p.M2584V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2584						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGAGGGATCATTGTGTGGGAA	0.438													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20823	0.0		0.0	False		,,,				2504	0.0																0													151.0	137.0	142.0					4																	13600774		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7750A>G	4.37:g.13600774T>C	ENSP00000040738:p.Met2584Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.M2584V	ENST00000040738.5	37	c.7750	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	6.223	0.409293	0.11812	.	.	ENSG00000038219	ENST00000040738	T	0.06218	3.33	5.1	-10.2	0.00374	.	2.995770	0.01246	N	0.008749	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.27785	T	0.31	.	3.882	0.09082	0.1914:0.1676:0.0871:0.5538	.	2584	Q8NFC6	BOD1L_HUMAN	V	2584	ENSP00000040738:M2584V	ENSP00000040738:M2584V	M	-	1	0	BOD1L	13209872	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.085000	0.11250	-2.402000	0.00577	-1.161000	0.01788	ATG	BOD1L1	-	NULL		0.438	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	T	NM_148894		13600774	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.000	C
CASC2	255082	genome.wustl.edu	37	10	119814768	119814768	+	RNA	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:119814768G>C	ENST00000435944.1	+	0	452				CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000439517.1_RNA|CASC2_ENST00000454781.1_RNA	NR_026939.1		Q6XLA1	CSC2A_HUMAN	cancer susceptibility candidate 2 (non-protein coding)																		GAAAGTGACTGAGAGAGGGCT	0.483																																																	0																																												255082			AJ535620		10q26.12	2012-10-16	2011-08-30	2004-01-23	ENSG00000177640	ENSG00000177640		"""Long non-coding RNAs"""	22933	non-coding RNA	RNA, long non-coding		608598	"""chromosome 10 open reading frame 5"", ""cancer susceptibility candidate 2"""	C10orf5			Standard	NR_026939		Approved		uc001ldk.2	Q6XLA1	OTTHUMG00000019127		10.37:g.119814768G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRC5	RNA	SNP	-	NULL	ENST00000435944.1	37	NULL		10																																																																																			CASC2	-	-		0.483	CASC2-001	KNOWN	basic	antisense	CASC2	HGNC	antisense	OTTHUMT00000050577.4	G			119814768	+1	no_errors	ENST00000426021	ensembl	human	known	70_37	rna	SNP	0.001	C
CBLB	868	genome.wustl.edu	37	3	105464807	105464807	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:105464807C>T	ENST00000264122.4	-	6	1120	c.799G>A	c.(799-801)Gat>Aat	p.D267N	CBLB_ENST00000405772.1_Missense_Mutation_p.D267N|CBLB_ENST00000403724.1_Missense_Mutation_p.D267N|CBLB_ENST00000394027.3_Missense_Mutation_p.D289N|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	267	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTAACTTCATCATATGTGAGA	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													136.0	145.0	142.0					3																	105464807		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.799G>A	3.37:g.105464807C>T	ENSP00000264122:p.Asp267Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.D267N	ENST00000264122.4	37	c.799	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.186129	0.94885	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	6.08	6.08	0.98989	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.92270	0.5824	10	0.87932	D	0	-22.4814	20.6634	0.99662	0.0:1.0:0.0:0.0	.	289;267;267	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	N	267;289;267;267	ENSP00000264122:D267N;ENSP00000377595:D289N;ENSP00000384816:D267N;ENSP00000384938:D267N	ENSP00000264122:D267N	D	-	1	0	CBLB	106947497	1.000000	0.71417	0.991000	0.47740	0.644000	0.38419	7.793000	0.85851	2.894000	0.99253	0.655000	0.94253	GAT	CBLB	-	pfam_Adaptor_Cbl_SH2-like		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	C	NM_170662		105464807	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	T
CBLB	868	genome.wustl.edu	37	3	105464807	105464807	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:105464807C>T	ENST00000264122.4	-	6	1120	c.799G>A	c.(799-801)Gat>Aat	p.D267N	CBLB_ENST00000405772.1_Missense_Mutation_p.D267N|CBLB_ENST00000403724.1_Missense_Mutation_p.D267N|CBLB_ENST00000394027.3_Missense_Mutation_p.D289N|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	267	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTAACTTCATCATATGTGAGA	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													136.0	145.0	142.0					3																	105464807		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.799G>A	3.37:g.105464807C>T	ENSP00000264122:p.Asp267Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.D267N	ENST00000264122.4	37	c.799	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.186129	0.94885	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	6.08	6.08	0.98989	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.92270	0.5824	10	0.87932	D	0	-22.4814	20.6634	0.99662	0.0:1.0:0.0:0.0	.	289;267;267	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	N	267;289;267;267	ENSP00000264122:D267N;ENSP00000377595:D289N;ENSP00000384816:D267N;ENSP00000384938:D267N	ENSP00000264122:D267N	D	-	1	0	CBLB	106947497	1.000000	0.71417	0.991000	0.47740	0.644000	0.38419	7.793000	0.85851	2.894000	0.99253	0.655000	0.94253	GAT	CBLB	-	pfam_Adaptor_Cbl_SH2-like		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	C	NM_170662		105464807	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC125	202243	genome.wustl.edu	37	5	68577722	68577723	+	3'UTR	INS	-	-	TG	rs201394560|rs70992913|rs568804392	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr5:68577722_68577723insTG	ENST00000396496.2	-	0	2476_2477				CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_3'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125							cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		GTAATGTGtttttttttttttt	0.381																																																	0																																										SO:0001624	3_prime_UTR_variant	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.*834->CA	5.37:g.68577722_68577723insTG		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86Z19	RNA	INS	-	NULL	ENST00000396496.2	37	NULL	CCDS4000.1	5																																																																																			CCDC125	-	-		0.381	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	-	NM_176816		68577723	-1	no_errors	ENST00000460090	ensembl	human	known	70_37	rna	INS	0.027:0.023	TG
CCL23	6368	genome.wustl.edu	37	17	34340828	34340828	+	Missense_Mutation	SNP	C	C	G	rs538427986		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:34340828C>G	ENST00000591423.1	-	3	271	c.207G>C	c.(205-207)gaG>gaC	p.E69D	RP11-104J23.2_ENST00000590149.1_lincRNA|CCL23_ENST00000293280.2_Missense_Mutation_p.E86D|RP11-104J23.1_ENST00000588294.1_RNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	69					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAAGTAACTCTCCAGGAGTG	0.522																																																	0													121.0	102.0	108.0					17																	34340828		2203	4300	6503	SO:0001583	missense	6368			U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.207G>C	17.37:g.34340828C>G	ENSP00000465954:p.Glu69Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.E86D	ENST00000591423.1	37	c.258	CCDS59282.1	17	.	.	.	.	.	.	.	.	.	.	C	3.201	-0.163790	0.06502	.	.	ENSG00000167236	ENST00000293280	T	0.05319	3.46	3.7	-3.41	0.04839	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	2.753360	0.01431	N	0.014720	T	0.05456	0.0144	L	0.47190	1.495	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.35968	-0.9767	10	0.13853	T	0.58	.	0.9852	0.01444	0.1675:0.3266:0.1717:0.3341	.	69;86	P55773;P55773-2	CCL23_HUMAN;.	D	86	ENSP00000293280:E86D	ENSP00000293280:E86D	E	-	3	2	CCL23	31364941	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.386000	0.02537	-0.926000	0.03770	-0.424000	0.05967	GAG	CCL23	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.522	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCL23	HGNC	protein_coding	OTTHUMT00000450228.1	C	NM_005064, NM_145898		34340828	-1	no_errors	ENST00000293280	ensembl	human	known	70_37	missense	SNP	0.000	G
CCL23	6368	genome.wustl.edu	37	17	34340828	34340828	+	Missense_Mutation	SNP	C	C	G	rs538427986		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:34340828C>G	ENST00000591423.1	-	3	271	c.207G>C	c.(205-207)gaG>gaC	p.E69D	RP11-104J23.2_ENST00000590149.1_lincRNA|CCL23_ENST00000293280.2_Missense_Mutation_p.E86D|RP11-104J23.1_ENST00000588294.1_RNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	69					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAAGTAACTCTCCAGGAGTG	0.522																																																	0													121.0	102.0	108.0					17																	34340828		2203	4300	6503	SO:0001583	missense	6368			U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.207G>C	17.37:g.34340828C>G	ENSP00000465954:p.Glu69Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.E86D	ENST00000591423.1	37	c.258	CCDS59282.1	17	.	.	.	.	.	.	.	.	.	.	C	3.201	-0.163790	0.06502	.	.	ENSG00000167236	ENST00000293280	T	0.05319	3.46	3.7	-3.41	0.04839	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	2.753360	0.01431	N	0.014720	T	0.05456	0.0144	L	0.47190	1.495	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.35968	-0.9767	10	0.13853	T	0.58	.	0.9852	0.01444	0.1675:0.3266:0.1717:0.3341	.	69;86	P55773;P55773-2	CCL23_HUMAN;.	D	86	ENSP00000293280:E86D	ENSP00000293280:E86D	E	-	3	2	CCL23	31364941	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.386000	0.02537	-0.926000	0.03770	-0.424000	0.05967	GAG	CCL23	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.522	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCL23	HGNC	protein_coding	OTTHUMT00000450228.1	C	NM_005064, NM_145898		34340828	-1	no_errors	ENST00000293280	ensembl	human	known	70_37	missense	SNP	0.000	G
CCL23	6368	genome.wustl.edu	37	17	34340871	34340871	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:34340871C>T	ENST00000591423.1	-	3	228	c.164G>A	c.(163-165)tGc>tAc	p.C55Y	RP11-104J23.2_ENST00000590149.1_lincRNA|CCL23_ENST00000293280.2_Missense_Mutation_p.C72Y|RP11-104J23.1_ENST00000588294.1_RNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	55					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTAGGAGATGCAGCAGTCAGC	0.537																																																	0													156.0	118.0	131.0					17																	34340871		2203	4300	6503	SO:0001583	missense	6368			U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.164G>A	17.37:g.34340871C>T	ENSP00000465954:p.Cys55Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.C72Y	ENST00000591423.1	37	c.215	CCDS59282.1	17	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112973	0.56398	.	.	ENSG00000167236	ENST00000293280	D	0.86097	-2.07	3.7	3.7	0.42460	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	D	0.93815	0.8022	H	0.95187	3.635	0.44702	D	0.997697	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94638	0.7828	10	0.87932	D	0	.	11.1228	0.48300	0.0:1.0:0.0:0.0	.	55;72	P55773;P55773-2	CCL23_HUMAN;.	Y	72	ENSP00000293280:C72Y	ENSP00000293280:C72Y	C	-	2	0	CCL23	31364984	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	3.576000	0.53878	2.042000	0.60477	0.511000	0.50034	TGC	CCL23	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.537	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCL23	HGNC	protein_coding	OTTHUMT00000450228.1	C	NM_005064, NM_145898		34340871	-1	no_errors	ENST00000293280	ensembl	human	known	70_37	missense	SNP	0.999	T
CD244	51744	genome.wustl.edu	37	1	160811119	160811119	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:160811119T>C	ENST00000368033.3	-	3	633	c.551A>G	c.(550-552)tAc>tGc	p.Y184C	CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Missense_Mutation_p.Y179C|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.Y179C			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	184	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCGTCCAGGTAGGTGAGGTT	0.522																																																	0													256.0	205.0	222.0					1																	160811119		2203	4300	6503	SO:0001583	missense	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.551A>G	1.37:g.160811119T>C	ENSP00000357012:p.Tyr184Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like	p.Y184C	ENST00000368033.3	37	c.551	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238799	0.39598	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.38240	1.15;1.15;1.15	4.73	-4.64	0.03349	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.081450	0.00531	N	0.000213	T	0.12860	0.0312	L	0.34521	1.04	0.09310	N	1	D;P	0.52996	0.957;0.733	P;P	0.49421	0.61;0.498	T	0.09930	-1.0652	10	0.39692	T	0.17	-21.975	0.5266	0.00621	0.4067:0.1696:0.1392:0.2845	.	184;179	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	C	179;184;179	ENSP00000357013:Y179C;ENSP00000357012:Y184C;ENSP00000357011:Y179C	ENSP00000357011:Y179C	Y	-	2	0	CD244	159077743	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.188000	0.09642	-0.646000	0.05452	-0.258000	0.10820	TAC	CD244	-	pfscan_Ig-like		0.522	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	T	NM_016382		160811119	-1	no_errors	ENST00000368033	ensembl	human	known	70_37	missense	SNP	0.000	C
CD244	51744	genome.wustl.edu	37	1	160811119	160811119	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:160811119T>C	ENST00000368033.3	-	3	633	c.551A>G	c.(550-552)tAc>tGc	p.Y184C	CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Missense_Mutation_p.Y179C|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.Y179C			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	184	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCGTCCAGGTAGGTGAGGTT	0.522																																																	0													256.0	205.0	222.0					1																	160811119		2203	4300	6503	SO:0001583	missense	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.551A>G	1.37:g.160811119T>C	ENSP00000357012:p.Tyr184Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like	p.Y184C	ENST00000368033.3	37	c.551	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238799	0.39598	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.38240	1.15;1.15;1.15	4.73	-4.64	0.03349	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.081450	0.00531	N	0.000213	T	0.12860	0.0312	L	0.34521	1.04	0.09310	N	1	D;P	0.52996	0.957;0.733	P;P	0.49421	0.61;0.498	T	0.09930	-1.0652	10	0.39692	T	0.17	-21.975	0.5266	0.00621	0.4067:0.1696:0.1392:0.2845	.	184;179	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	C	179;184;179	ENSP00000357013:Y179C;ENSP00000357012:Y184C;ENSP00000357011:Y179C	ENSP00000357011:Y179C	Y	-	2	0	CD244	159077743	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.188000	0.09642	-0.646000	0.05452	-0.258000	0.10820	TAC	CD244	-	pfscan_Ig-like		0.522	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	T	NM_016382		160811119	-1	no_errors	ENST00000368033	ensembl	human	known	70_37	missense	SNP	0.000	C
CDC42EP1	11135	genome.wustl.edu	37	22	37964251	37964251	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr22:37964251C>T	ENST00000249014.4	+	3	1020	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	200					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCCTGGACCTCGACCTTGGGC	0.667																																																	0													59.0	64.0	62.0					22																	37964251		2203	4300	6503	SO:0001819	synonymous_variant	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.600C>T	22.37:g.37964251C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K825|Q96GN1	Silent	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.L200	ENST00000249014.4	37	c.600	CCDS13949.1	22																																																																																			CDC42EP1	-	NULL		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	C	NM_152243		37964251	+1	no_errors	ENST00000249014	ensembl	human	known	70_37	silent	SNP	0.932	T
CDC42EP1	11135	genome.wustl.edu	37	22	37964251	37964251	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr22:37964251C>T	ENST00000249014.4	+	3	1020	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	200					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCCTGGACCTCGACCTTGGGC	0.667																																																	0													59.0	64.0	62.0					22																	37964251		2203	4300	6503	SO:0001819	synonymous_variant	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.600C>T	22.37:g.37964251C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K825|Q96GN1	Silent	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.L200	ENST00000249014.4	37	c.600	CCDS13949.1	22																																																																																			CDC42EP1	-	NULL		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	C	NM_152243		37964251	+1	no_errors	ENST00000249014	ensembl	human	known	70_37	silent	SNP	0.932	T
CDH8	1006	genome.wustl.edu	37	16	61952343	61952343	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:61952343C>T	ENST00000577390.1	-	3	1207				CDH8_ENST00000577730.1_Intron|CTC-420A11.2_ENST00000562349.1_RNA|CDH8_ENST00000584337.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		agacagtgggcgcaggtcagt	0.612																																																	0																																										SO:0001627	intron_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.253-16966G>A	16.37:g.61952343C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWC1|Q14DC6|Q9ULB2	RNA	SNP	-	NULL	ENST00000577390.1	37	NULL	CCDS10802.1	16																																																																																			CDH8	-	-		0.612	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	C	NM_001796		61952343	-1	no_errors	ENST00000577228	ensembl	human	putative	70_37	rna	SNP	0.189	T
CELSR1	9620	genome.wustl.edu	37	22	46777897	46777897	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr22:46777897G>A	ENST00000262738.3	-	21	6933	c.6934C>T	c.(6934-6936)Cgc>Tgc	p.R2312C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2312			R -> P (does not affect protein localization to the cell membrane; dbSNP:rs7287089). {ECO:0000269|PubMed:22095531}.		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCCCGGGCGCGTGGTCTGC	0.682																																																	0													8.0	9.0	8.0					22																	46777897		2137	4189	6326	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6934C>T	22.37:g.46777897G>A	ENSP00000262738:p.Arg2312Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R2312C	ENST00000262738.3	37	c.6934	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515045	0.44763	.	.	ENSG00000075275	ENST00000262738	T	0.68624	-0.34	4.89	1.36	0.22044	Domain of unknown function DUF3497 (1);	1.362770	0.05247	U	0.513271	T	0.66519	0.2797	N	0.22421	0.69	0.09310	N	1	D;D	0.69078	0.997;0.99	P;B	0.58266	0.836;0.396	T	0.56486	-0.7971	10	0.62326	D	0.03	.	7.5036	0.27532	0.0913:0.349:0.5597:0.0	.	633;2312	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	C	2312	ENSP00000262738:R2312C	ENSP00000262738:R2312C	R	-	1	0	CELSR1	45156561	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.047000	0.30367	0.470000	0.27294	-0.321000	0.08615	CGC	CELSR1	-	pfam_DUF3497		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	G	NM_014246		46777897	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	0.000	A
CEPT1	10390	genome.wustl.edu	37	1	111724619	111724619	+	Intron	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:111724619C>G	ENST00000545121.1	+	6	922				RP5-1180E21.5_ENST00000610049.1_RNA|RP5-1180E21.4_ENST00000607951.1_RNA|CEPT1_ENST00000357172.4_Intron|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AGATTAATTTCTAAATAGTCT	0.313																																																	0																																										SO:0001627	intron_variant	10390			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.715-190C>G	1.37:g.111724619C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YJ9|Q9P0Y8	RNA	SNP	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			CEPT1	-	-		0.313	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	C	NM_006090		111724619	+1	no_errors	ENST00000467362	ensembl	human	known	70_37	rna	SNP	0.002	G
CHAT	1103	genome.wustl.edu	37	10	50821494	50821494	+	5'Flank	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:50821494C>T	ENST00000337653.2	+	0	0				CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_Intron|CHAT_ENST00000351556.3_Intron|CHAT_ENST00000460699.1_Intron|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase						adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCAGCGTTCGCGCAACACTCC	0.602																																																	0																																										SO:0001631	upstream_gene_variant	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198		10.37:g.50821494C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	RNA	SNP	-	NULL	ENST00000337653.2	37	NULL	CCDS7232.1	10																																																																																			CHAT	-	-		0.602	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	C	NM_020549		50821494	+1	no_errors	ENST00000497767	ensembl	human	known	70_37	rna	SNP	0.000	T
COL1A2	1278	genome.wustl.edu	37	7	94052321	94052321	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:94052321G>A	ENST00000297268.6	+	40	2927	c.2456G>A	c.(2455-2457)cGt>cAt	p.R819H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	819			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAAGGGCTTCGTGGTCCTCGT	0.562										HNSCC(75;0.22)																																							0													162.0	154.0	156.0					7																	94052321		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2456G>A	7.37:g.94052321G>A	ENSP00000297268:p.Arg819His	Somatic		WXS	Illumina HiSeq	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.R819H	ENST00000297268.6	37	c.2456	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	30	5.052419	0.93793	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93366	-3.21	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.55213	1.73	0.58432	D	0.999996	D	0.76494	0.999	D	0.70227	0.968	D	0.95959	0.8960	10	0.66056	D	0.02	.	18.8488	0.92218	0.0:0.0:1.0:0.0	.	819	P08123	CO1A2_HUMAN	H	819;820	ENSP00000297268:R819H	ENSP00000297268:R819H	R	+	2	0	COL1A2	93890257	1.000000	0.71417	0.974000	0.42286	0.973000	0.67179	4.820000	0.62671	2.538000	0.85594	0.563000	0.77884	CGT	COL1A2	-	NULL		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	G	NM_000089		94052321	+1	no_errors	ENST00000297268	ensembl	human	known	70_37	missense	SNP	1.000	A
COL1A2	1278	genome.wustl.edu	37	7	94052321	94052321	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:94052321G>A	ENST00000297268.6	+	40	2927	c.2456G>A	c.(2455-2457)cGt>cAt	p.R819H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	819			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAAGGGCTTCGTGGTCCTCGT	0.562										HNSCC(75;0.22)																																							0													162.0	154.0	156.0					7																	94052321		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2456G>A	7.37:g.94052321G>A	ENSP00000297268:p.Arg819His	Somatic		WXS	Illumina HiSeq	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.R819H	ENST00000297268.6	37	c.2456	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	30	5.052419	0.93793	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93366	-3.21	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.55213	1.73	0.58432	D	0.999996	D	0.76494	0.999	D	0.70227	0.968	D	0.95959	0.8960	10	0.66056	D	0.02	.	18.8488	0.92218	0.0:0.0:1.0:0.0	.	819	P08123	CO1A2_HUMAN	H	819;820	ENSP00000297268:R819H	ENSP00000297268:R819H	R	+	2	0	COL1A2	93890257	1.000000	0.71417	0.974000	0.42286	0.973000	0.67179	4.820000	0.62671	2.538000	0.85594	0.563000	0.77884	CGT	COL1A2	-	NULL		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	G	NM_000089		94052321	+1	no_errors	ENST00000297268	ensembl	human	known	70_37	missense	SNP	1.000	A
CHRM2	1129	genome.wustl.edu	37	7	136556185	136556185	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:136556185C>T	ENST00000445907.2	+	2	482				hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Intron|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Intron|CHRM2_ENST00000401861.1_Intron|CHRM2_ENST00000453373.1_Intron|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000480591.1_3'UTR|CHRM2_ENST00000320658.5_Intron|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCGCCAGCGCTTCTGTTCGC	0.607																																																	0																																										SO:0001627	intron_variant	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.-47+2020C>T	7.37:g.136556185C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VBK6|Q9P1X9	RNA	SNP	-	NULL	ENST00000445907.2	37	NULL	CCDS5843.1	7																																																																																			CHRM2	-	-		0.607	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	C			136556185	+1	no_errors	ENST00000480591	ensembl	human	known	70_37	rna	SNP	0.000	T
CTNNA3	29119	genome.wustl.edu	37	10	68280427	68280427	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:68280427G>A	ENST00000433211.2	-	11	1653	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CTNNA3_ENST00000373744.4_Silent_p.L493L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGGCTTCAGTGAGGACATGTA	0.368																																																	0													188.0	164.0	172.0					10																	68280427		2203	4300	6503	SO:0001819	synonymous_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1479C>T	10.37:g.68280427G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L493	ENST00000433211.2	37	c.1479	CCDS7269.1	10																																																																																			CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68280427	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	silent	SNP	1.000	A
CTNNA3	29119	genome.wustl.edu	37	10	68280427	68280427	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:68280427G>A	ENST00000433211.2	-	11	1653	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CTNNA3_ENST00000373744.4_Silent_p.L493L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGGCTTCAGTGAGGACATGTA	0.368																																																	0													188.0	164.0	172.0					10																	68280427		2203	4300	6503	SO:0001819	synonymous_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1479C>T	10.37:g.68280427G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L493	ENST00000433211.2	37	c.1479	CCDS7269.1	10																																																																																			CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68280427	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	silent	SNP	1.000	A
CYFIP1	23191	genome.wustl.edu	37	15	22990062	22990062	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:22990062G>A	ENST00000313077.7	+	24	2807	c.2682G>A	c.(2680-2682)ttG>ttA	p.L894L	CYFIP1_ENST00000435939.2_Silent_p.L463L|CYFIP1_ENST00000560848.1_Silent_p.L894L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCCAGGCTTTGAACTTGGCCT	0.547																																																	0													123.0	113.0	117.0					15																	22990062		2203	4300	6503	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2682G>A	15.37:g.22990062G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.L894	ENST00000313077.7	37	c.2682	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.547	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22990062	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	silent	SNP	1.000	A
CYFIP1	23191	genome.wustl.edu	37	15	22990062	22990062	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:22990062G>A	ENST00000313077.7	+	24	2807	c.2682G>A	c.(2680-2682)ttG>ttA	p.L894L	CYFIP1_ENST00000435939.2_Silent_p.L463L|CYFIP1_ENST00000560848.1_Silent_p.L894L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCCAGGCTTTGAACTTGGCCT	0.547																																																	0													123.0	113.0	117.0					15																	22990062		2203	4300	6503	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2682G>A	15.37:g.22990062G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.L894	ENST00000313077.7	37	c.2682	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.547	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22990062	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	silent	SNP	1.000	A
CYP4Z2P	163720	genome.wustl.edu	37	1	47338925	47338925	+	RNA	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:47338925C>G	ENST00000505841.1	-	0	869					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CTTTGGCACTCAAAAGTATGT	0.393																																																	0																																												163720			AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47338925C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66ZJ5	RNA	SNP	-	NULL	ENST00000505841.1	37	NULL		1																																																																																			CYP4Z2P	-	-		0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	CYP4Z2P	HGNC	pseudogene	OTTHUMT00000361094.1	C	NR_002788		47338925	-1	no_errors	ENST00000505841	ensembl	human	known	70_37	rna	SNP	0.879	G
CYP4Z2P	163720	genome.wustl.edu	37	1	47338925	47338925	+	RNA	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:47338925C>G	ENST00000505841.1	-	0	869					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CTTTGGCACTCAAAAGTATGT	0.393																																																	0																																												163720			AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47338925C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66ZJ5	RNA	SNP	-	NULL	ENST00000505841.1	37	NULL		1																																																																																			CYP4Z2P	-	-		0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	CYP4Z2P	HGNC	pseudogene	OTTHUMT00000361094.1	C	NR_002788		47338925	-1	no_errors	ENST00000505841	ensembl	human	known	70_37	rna	SNP	0.879	G
DSPP	1834	genome.wustl.edu	37	4	88537513	88537513	+	Missense_Mutation	SNP	A	A	C	rs112275895		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:88537513A>C	ENST00000282478.7	+	4	3732	c.3699A>C	c.(3697-3699)gaA>gaC	p.E1233D	DSPP_ENST00000399271.1_Missense_Mutation_p.E1233D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1233	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcaatgaaagcagcgaca	0.547																																																	0																																										SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3699A>C	4.37:g.88537513A>C	ENSP00000282478:p.Glu1233Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.E1233D	ENST00000282478.7	37	c.3699	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.785366	0.00628	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88741	-2.42;-2.42	2.61	-5.21	0.02815	.	.	.	.	.	T	0.57213	0.2038	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57347	-0.7827	9	0.02654	T	1	.	0.7125	0.00926	0.2623:0.1881:0.1298:0.4197	.	1233	Q9NZW4	DSPP_HUMAN	D	1233	ENSP00000382213:E1233D;ENSP00000282478:E1233D	ENSP00000282478:E1233D	E	+	3	2	DSPP	88756537	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-2.769000	0.00780	-2.252000	0.00699	-3.496000	0.00033	GAA	DSPP	-	NULL		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	A	NM_014208		88537513	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	missense	SNP	0.000	C
DSPP	1834	genome.wustl.edu	37	4	88537522	88537522	+	Silent	SNP	C	C	T	rs111884410		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:88537522C>T	ENST00000282478.7	+	4	3741	c.3708C>T	c.(3706-3708)gaC>gaT	p.D1236D	DSPP_ENST00000399271.1_Silent_p.D1236D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1236	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		aaagcagcgacagcagtgaca	0.537																																																	0													73.0	88.0	82.0					4																	88537522		1653	2956	4609	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3708C>T	4.37:g.88537522C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUI0|O95815	Silent	SNP	NULL	p.D1236	ENST00000282478.7	37	c.3708	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	C	NM_014208		88537522	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.991	T
EEF1A1	1915	genome.wustl.edu	37	6	74227940	74227940	+	Silent	SNP	A	A	C	rs11556677	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:74227940A>C	ENST00000316292.9	-	6	2068	c.1077T>G	c.(1075-1077)ccT>ccG	p.P359P	EEF1A1_ENST00000309268.6_Silent_p.P359P|EEF1A1_ENST00000331523.2_Silent_p.P359P|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	359					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						AATCCAATACAGGGGCATAGC	0.448																																																	0													36.0	40.0	38.0					6																	74227940		2195	4298	6493	SO:0001819	synonymous_variant	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1077T>G	6.37:g.74227940A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	P04719|P04720|Q6IQ15	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.P359	ENST00000316292.9	37	c.1077	CCDS4980.1	6																																																																																			EEF1A1	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc		0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	A	NM_001402		74227940	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	silent	SNP	1.000	C
EIF4B	1975	genome.wustl.edu	37	12	53421858	53421858	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:53421858G>A	ENST00000262056.9	+	8	1191	c.865G>A	c.(865-867)Gat>Aat	p.D289N	EIF4B_ENST00000416762.3_Missense_Mutation_p.D250N|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D289N	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	289	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCGCAGGGATGATGACTACAG	0.502																																																	0													79.0	84.0	83.0					12																	53421858		1910	4133	6043	SO:0001583	missense	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.865G>A	12.37:g.53421858G>A	ENSP00000262056:p.Asp289Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D289N	ENST00000262056.9	37	c.865	CCDS41788.1	12	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657272	0.67586	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.49720	0.79;0.77;0.84;0.8	4.48	4.48	0.54585	.	0.113469	0.56097	D	0.000032	T	0.60534	0.2276	M	0.69823	2.125	0.58432	D	0.999994	D;D;D;D	0.61080	0.987;0.978;0.989;0.978	P;P;P;P	0.54856	0.74;0.554;0.762;0.554	T	0.61441	-0.7062	10	0.35671	T	0.21	.	16.6135	0.84900	0.0:0.0:1.0:0.0	.	250;289;265;289	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	N	289;289;265;250;244;243	ENSP00000262056:D289N;ENSP00000388806:D289N;ENSP00000449746:D244N;ENSP00000450324:D243N	ENSP00000262056:D289N	D	+	1	0	EIF4B	51708125	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.382000	0.66213	2.409000	0.81822	0.655000	0.94253	GAT	EIF4B	-	NULL		0.502	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	G	NM_001417		53421858	+1	no_errors	ENST00000262056	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF4B	1975	genome.wustl.edu	37	12	53421858	53421858	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:53421858G>A	ENST00000262056.9	+	8	1191	c.865G>A	c.(865-867)Gat>Aat	p.D289N	EIF4B_ENST00000416762.3_Missense_Mutation_p.D250N|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D289N	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	289	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCGCAGGGATGATGACTACAG	0.502																																																	0													79.0	84.0	83.0					12																	53421858		1910	4133	6043	SO:0001583	missense	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.865G>A	12.37:g.53421858G>A	ENSP00000262056:p.Asp289Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D289N	ENST00000262056.9	37	c.865	CCDS41788.1	12	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657272	0.67586	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.49720	0.79;0.77;0.84;0.8	4.48	4.48	0.54585	.	0.113469	0.56097	D	0.000032	T	0.60534	0.2276	M	0.69823	2.125	0.58432	D	0.999994	D;D;D;D	0.61080	0.987;0.978;0.989;0.978	P;P;P;P	0.54856	0.74;0.554;0.762;0.554	T	0.61441	-0.7062	10	0.35671	T	0.21	.	16.6135	0.84900	0.0:0.0:1.0:0.0	.	250;289;265;289	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	N	289;289;265;250;244;243	ENSP00000262056:D289N;ENSP00000388806:D289N;ENSP00000449746:D244N;ENSP00000450324:D243N	ENSP00000262056:D289N	D	+	1	0	EIF4B	51708125	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.382000	0.66213	2.409000	0.81822	0.655000	0.94253	GAT	EIF4B	-	NULL		0.502	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	G	NM_001417		53421858	+1	no_errors	ENST00000262056	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF4G3	8672	genome.wustl.edu	37	1	21391064	21391064	+	Intron	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:21391064G>A	ENST00000400422.1	-	4	386				EIF4G3_ENST00000602326.1_Intron|EIF4G3_ENST00000374927.4_Intron|EIF4G3_ENST00000356916.3_Intron	NM_001198801.1	NP_001185730.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TAATAGAATCGTGTAGCACTA	0.378																																																	0																																										SO:0001627	intron_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000400422.1:c.195-13577C>T	1.37:g.21391064G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	RNA	SNP	-	NULL	ENST00000400422.1	37	NULL	CCDS214.1	1																																																																																			EIF4G3	-	-		0.378	EIF4G3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding		G	NM_003760		21391064	-1	no_errors	ENST00000463775	ensembl	human	known	70_37	rna	SNP	0.000	A
RN7SKP250	106479206	genome.wustl.edu	37	12	110100744	110100744	+	RNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:110100744G>A	ENST00000363924.1	-	0	244									RNA, 7SK small nuclear pseudogene 250																		AGAAATTAGAGATAATttgag	0.378																																																	0																																												0					12q24.11	2013-03-19			ENSG00000200794	ENSG00000200794			45974	pseudogene	RNA, pseudogene							Standard			Approved						12.37:g.110100744G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000363924.1	37	NULL		12																																																																																			7SK	-	-		0.378	RN7SKP250-201	KNOWN	basic	misc_RNA	ENSG00000200794	RFAM	misc_RNA		G			110100744	-1	no_errors	ENST00000363924	ensembl	human	novel	70_37	rna	SNP	0.064	A
ZNF813	126017	genome.wustl.edu	37	19	54007225	54007225	+	IGR	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:54007225C>T	ENST00000396421.4	+	0	300				CTD-2224J9.8_ENST00000601966.1_RNA			Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGGGCTCATGCTCTGGGGCAG	0.597																																																	0																																										SO:0001628	intergenic_variant	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309		19.37:g.54007225C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000396421.4	37	NULL		19																																																																																			CTD-2224J9.8	-	-		0.597	ZNF813-201	KNOWN	basic	protein_coding	ENSG00000213777	Clone_based_vega_gene	protein_coding		C	NM_001004301		54007225	+1	no_errors	ENST00000597004	ensembl	human	known	70_37	rna	SNP	0.844	T
HEXIM2	124790	genome.wustl.edu	37	17	43238875	43238875	+	Intron	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:43238875G>A	ENST00000307275.3	+	1	244				AC002117.1_ENST00000589950.1_RNA|HEXIM2_ENST00000592695.1_5'Flank|AC002117.1_ENST00000452741.1_RNA|HEXIM2_ENST00000591576.1_5'Flank	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2						negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						AAATGGCGGCGATGGCCGCCG	0.692																																																	0																																										SO:0001627	intron_variant	0			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.-193+565G>A	17.37:g.43238875G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX66	RNA	SNP	-	NULL	ENST00000307275.3	37	NULL	CCDS11496.1	17																																																																																			AC002117.1	-	-		0.692	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224505	Clone_based_vega_gene	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43238875	-1	no_errors	ENST00000589950	ensembl	human	known	70_37	rna	SNP	1.000	A
RORB	6096	genome.wustl.edu	37	9	77113954	77113954	+	Intron	SNP	G	G	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:77113954G>T	ENST00000376896.3	+	1	619				RP11-171A24.3_ENST00000417576.2_RNA	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B						amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TTACTGAAGAGCCAGGCGGGT	0.612																																																	0																																										SO:0001627	intron_variant	0			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000376896.3:c.7+1055G>T	9.37:g.77113954G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WX73	RNA	SNP	-	NULL	ENST00000376896.3	37	NULL	CCDS6646.1	9																																																																																			RP11-171A24.3	-	-		0.612	RORB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224825	Clone_based_vega_gene	protein_coding	OTTHUMT00000052692.2	G			77113954	-1	no_errors	ENST00000417576	ensembl	human	known	70_37	rna	SNP	0.238	T
RP1-137D17.1	0	genome.wustl.edu	37	6	169774114	169774114	+	lincRNA	SNP	C	C	T	rs11967063		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:169774114C>T	ENST00000440168.1	-	0	1943																											TGTGATCTCACAGGTGGAGCC	0.507																																																	0																																												0																															6.37:g.169774114C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000440168.1	37	NULL		6																																																																																			RP1-137D17.1	-	-		0.507	RP1-137D17.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000226194	Clone_based_vega_gene	lincRNA	OTTHUMT00000043211.1	C			169774114	-1	no_errors	ENST00000440168	ensembl	human	known	70_37	rna	SNP	0.055	T
LOC101927575	101927575	genome.wustl.edu	37	9	86690633	86690634	+	lincRNA	INS	-	-	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:86690633_86690634insA	ENST00000423515.2	+	0	511_512																											gattgtaaaagaaaaaaaaaaa	0.475																																																	0																																												0																															9.37:g.86690644_86690644dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000423515.2	37	NULL		9																																																																																			RP11-158D2.2	-	-		0.475	RP11-158D2.2-001	KNOWN	basic	lincRNA	ENSG00000227463	Clone_based_vega_gene	lincRNA	OTTHUMT00000052872.2	-			86690634	+1	no_errors	ENST00000423515	ensembl	human	putative	70_37	rna	INS	0.009:0.009	A
CHMP3	51652	genome.wustl.edu	37	2	86790405	86790405	+	Intron	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:86790405C>G	ENST00000263856.4	-	1	174				CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_Intron|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000409727.1_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											ACCCGCTTATCTGCCGCCGCC	0.607																																																	0													135.0	144.0	141.0					2																	86790405		2203	4300	6503	SO:0001627	intron_variant	0			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.45+21G>C	2.37:g.86790405C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	RNA	SNP	-	NULL	ENST00000263856.4	37	NULL	CCDS33236.1	2																																																																																			AC015971.2	-	-		0.607	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228363	Clone_based_vega_gene	protein_coding	OTTHUMT00000330015.2	C	NM_016079		86790405	+1	no_errors	ENST00000597638	ensembl	human	known	70_37	rna	SNP	0.000	G
CHMP3	51652	genome.wustl.edu	37	2	86790405	86790405	+	Intron	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:86790405C>G	ENST00000263856.4	-	1	174				CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_Intron|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000409727.1_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											ACCCGCTTATCTGCCGCCGCC	0.607																																																	0													135.0	144.0	141.0					2																	86790405		2203	4300	6503	SO:0001627	intron_variant	0			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.45+21G>C	2.37:g.86790405C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	RNA	SNP	-	NULL	ENST00000263856.4	37	NULL	CCDS33236.1	2																																																																																			AC015971.2	-	-		0.607	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228363	Clone_based_vega_gene	protein_coding	OTTHUMT00000330015.2	C	NM_016079		86790405	+1	no_errors	ENST00000597638	ensembl	human	known	70_37	rna	SNP	0.000	G
SYNDIG1	79953	genome.wustl.edu	37	20	24476198	24476198	+	Intron	SNP	A	A	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr20:24476198A>G	ENST00000376862.3	+	1	555				RP11-526K17.2_ENST00000458461.1_lincRNA	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1						intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCTGACTCGCAACCCAGCCTC	0.537																																																	0																																										SO:0001627	intron_variant	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.-79+25809A>G	20.37:g.24476198A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IA30|Q9H514	RNA	SNP	-	NULL	ENST00000376862.3	37	NULL	CCDS13164.1	20																																																																																			RP11-526K17.2	-	-		0.537	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228539	Clone_based_vega_gene	protein_coding	OTTHUMT00000078376.1	A	NM_024893		24476198	-1	no_errors	ENST00000458461	ensembl	human	known	70_37	rna	SNP	0.000	G
GS1-18A18.2	0	genome.wustl.edu	37	7	54643796	54643796	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:54643796G>A	ENST00000439027.1	-	0	705																											agtagaggaggaggaaataag	0.393																																																	0																																												0																															7.37:g.54643796G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000439027.1	37	NULL		7																																																																																			GS1-18A18.2	-	-		0.393	GS1-18A18.2-001	KNOWN	basic	lincRNA	ENSG00000228735	Clone_based_vega_gene	lincRNA	OTTHUMT00000342910.1	G			54643796	-1	no_errors	ENST00000439027	ensembl	human	known	70_37	rna	SNP	0.000	A
IGFN1	91156	genome.wustl.edu	37	1	201192022	201192022	+	Intron	SNP	G	G	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:201192022G>T	ENST00000335211.4	+	20	10420				RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1							nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTCAGCCCTGTGGCTCTCTT	0.572											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10290+67G>T	1.37:g.201192022G>T		Somatic	2119	WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	RNA	SNP	-	NULL	ENST00000335211.4	37	NULL	CCDS53455.1	1																																																																																			RP11-567E21.3	-	-		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000229821	Clone_based_vega_gene	protein_coding		G	NM_178275		201192022	-1	no_errors	ENST00000453155	ensembl	human	known	70_37	rna	SNP	0.001	T
IGFN1	91156	genome.wustl.edu	37	1	201192022	201192022	+	Intron	SNP	G	G	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:201192022G>T	ENST00000335211.4	+	20	10420				RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1							nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTCAGCCCTGTGGCTCTCTT	0.572											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10290+67G>T	1.37:g.201192022G>T		Somatic	2119	WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	RNA	SNP	-	NULL	ENST00000335211.4	37	NULL	CCDS53455.1	1																																																																																			RP11-567E21.3	-	-		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000229821	Clone_based_vega_gene	protein_coding		G	NM_178275		201192022	-1	no_errors	ENST00000453155	ensembl	human	known	70_37	rna	SNP	0.001	T
SYT15	83849	genome.wustl.edu	37	10	46966512	46966512	+	Intron	SNP	G	G	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:46966512G>T	ENST00000374321.4	-	5	718				SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGATAGAGTGGGGAAGTGATG	0.483																																					Ovarian(57;1152 1428 19651 37745)												0																																										SO:0001627	intron_variant	0			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.652-627C>A	10.37:g.46966512G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	RNA	SNP	-	NULL	ENST00000374321.4	37	NULL	CCDS44376.1	10																																																																																			RP11-38L15.3	-	-		0.483	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231187	Clone_based_vega_gene	protein_coding	OTTHUMT00000367008.1	G	NM_031912		46966512	+1	no_errors	ENST00000506914	ensembl	human	known	70_37	rna	SNP	0.009	T
LOC101927412	101927412	genome.wustl.edu	37	1	81110022	81110022	+	lincRNA	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:81110022C>T	ENST00000443104.1	+	0	349																											accATTCCTGCCTCTATACCT	0.428																																																	0																																												0																															1.37:g.81110022C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000443104.1	37	NULL		1																																																																																			RP5-887A10.1	-	-		0.428	RP5-887A10.1-003	KNOWN	basic	lincRNA	ENSG00000234184	Clone_based_vega_gene	lincRNA	OTTHUMT00000001251.1	C			81110022	+1	no_errors	ENST00000418041	ensembl	human	known	70_37	rna	SNP	0.003	T
AC020743.4	0	genome.wustl.edu	37	7	50315026	50315026	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:50315026G>A	ENST00000440351.1	-	0	90																											CAGCAGGACTGGAGGTGTCTG	0.507																																																	0																																												0																															7.37:g.50315026G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000440351.1	37	NULL		7																																																																																			AC020743.4	-	-		0.507	AC020743.4-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000235620	Clone_based_vega_gene	lincRNA	OTTHUMT00000342122.1	G			50315026	-1	no_errors	ENST00000440351	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC01287	103724390	genome.wustl.edu	37	7	153110716	153110716	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:153110716G>A	ENST00000416982.1	-	0	332																											ggccgaattggactggagtag	0.572																																																	0																																												0																															7.37:g.153110716G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000416982.1	37	NULL		7																																																																																			AC073236.3	-	-		0.572	AC073236.3-001	KNOWN	basic	lincRNA	ENSG00000234722	Clone_based_vega_gene	lincRNA	OTTHUMT00000280517.1	G			153110716	-1	no_errors	ENST00000416982	ensembl	human	known	70_37	rna	SNP	0.353	A
MGMT	4255	genome.wustl.edu	37	10	131498927	131498927	+	Intron	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:131498927G>A	ENST00000306010.7	+	3	250				RP11-109A6.2_ENST00000593883.1_RNA|RP11-109A6.2_ENST00000428178.1_RNA|RP11-109A6.2_ENST00000597465.1_RNA|RP11-109A6.2_ENST00000597245.1_RNA|RP11-109A6.2_ENST00000598332.1_RNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase						cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GCATTTGTCTGAAATACAGAG	0.368								Direct reversal of damage																																									0																																										SO:0001627	intron_variant	0			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.219-7232G>A	10.37:g.131498927G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VY78	RNA	SNP	-	NULL	ENST00000306010.7	37	NULL	CCDS7660.2	10																																																																																			RP11-109A6.2	-	-		0.368	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237224	Clone_based_vega_gene	protein_coding	OTTHUMT00000051009.3	G	NM_002412		131498927	-1	no_errors	ENST00000597245	ensembl	human	known	70_37	rna	SNP	0.003	A
snoU13	0	genome.wustl.edu	37	6	1186835	1186835	+	RNA	SNP	C	C	T	rs371669584	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:1186835C>T	ENST00000459140.1	+	0	83																											gttatgatgtcggcacatcac	0.418													C|||	3	0.000599042	0.0008	0.0	5008	,	,		20198	0.002		0.0	False		,,,				2504	0.0																0																																												0																															6.37:g.1186835C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000459140.1	37	NULL		6																																																																																			snoU13	-	-		0.418	snoU13.72-201	NOVEL	basic	snoRNA	ENSG00000238438	RFAM	snoRNA		C			1186835	+1	no_errors	ENST00000459140	ensembl	human	novel	70_37	rna	SNP	0.013	T
ANK2	287	genome.wustl.edu	37	4	113993054	113993054	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:113993054C>T	ENST00000357077.4	+	1	137				RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		gggaagcaaacacatccttct	0.433																																																	0																																										SO:0001627	intron_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.84+22086C>T	4.37:g.113993054C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	RNA	SNP	-	NULL	ENST00000357077.4	37	NULL	CCDS3702.1	4																																																																																			RP11-650J17.1	-	-		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	ENSG00000248152	Clone_based_vega_gene	protein_coding	OTTHUMT00000256422.2	C	NM_001148		113993054	-1	no_errors	ENST00000508959	ensembl	human	known	70_37	rna	SNP	0.014	T
KCNIP4	80333	genome.wustl.edu	37	4	21610551	21610551	+	Intron	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:21610551G>A	ENST00000382152.2	-	1	229				KCNIP4_ENST00000447367.2_Intron|RP11-556G22.3_ENST00000505528.2_RNA|KCNIP4_ENST00000382148.3_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CAAGTCACCCGGAGCACACAG	0.443																																																	0																																										SO:0001627	intron_variant	0			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.61+339642C>T	4.37:g.21610551G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	RNA	SNP	-	NULL	ENST00000382152.2	37	NULL	CCDS43216.1	4																																																																																			RP11-556G22.3	-	-		0.443	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	ENSG00000250092	Clone_based_vega_gene	protein_coding	OTTHUMT00000360407.3	G	NM_025221		21610551	+1	no_errors	ENST00000505528	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-138I17.1	0	genome.wustl.edu	37	4	137719287	137719287	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:137719287G>A	ENST00000505736.1	-	0	257																											AATATGGAAAGGCACTGAAAG	0.428																																																	0																																												0																															4.37:g.137719287G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000505736.1	37	NULL		4																																																																																			RP11-138I17.1	-	-		0.428	RP11-138I17.1-001	KNOWN	basic	lincRNA	ENSG00000248869	Clone_based_vega_gene	lincRNA	OTTHUMT00000364263.2	G			137719287	-1	no_errors	ENST00000505736	ensembl	human	known	70_37	rna	SNP	0.008	A
RP11-765K14.1	0	genome.wustl.edu	37	4	177801457	177801457	+	lincRNA	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:177801457C>T	ENST00000508790.1	+	0	389																											GGAGGCCCCTCCCTTGCAGCT	0.557																																																	0																																												0																															4.37:g.177801457C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000508790.1	37	NULL		4																																																																																			RP11-765K14.1	-	-		0.557	RP11-765K14.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000250263	Clone_based_vega_gene	lincRNA	OTTHUMT00000361981.2	C			177801457	+1	no_errors	ENST00000508790	ensembl	human	known	70_37	rna	SNP	0.005	T
LOC101929034	101929034	genome.wustl.edu	37	5	1856552	1856552	+	lincRNA	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr5:1856552C>T	ENST00000509455.1	-	0	130																											CCTGCCACTGCGCCTGGGAGT	0.488																																																	0																																												0																															5.37:g.1856552C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000509455.1	37	NULL		5																																																																																			CTD-2194D22.2	-	-		0.488	CTD-2194D22.2-001	KNOWN	basic	lincRNA	ENSG00000250417	Clone_based_vega_gene	lincRNA	OTTHUMT00000365492.1	C			1856552	-1	no_errors	ENST00000509455	ensembl	human	known	70_37	rna	SNP	0.001	T
ERVH-1	100616446	genome.wustl.edu	37	4	23735197	23735197	+	lincRNA	SNP	A	A	G	rs575128379|rs386672566	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:23735197A>G	ENST00000507666.1	-	0	5				RP11-380P13.1_ENST00000514290.1_RNA																							ATGAACAAAAAGTTGGCTGTT	0.418																																																	0																																												0																															4.37:g.23735197A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000507666.1	37	NULL		4																																																																																			RP11-380P13.2	-	-		0.418	RP11-380P13.2-001	KNOWN	basic	lincRNA	ENSG00000251292	Clone_based_vega_gene	lincRNA	OTTHUMT00000360000.1	A			23735197	-1	no_errors	ENST00000507666	ensembl	human	known	70_37	rna	SNP	0.000	G
CCAR2	57805	genome.wustl.edu	37	8	22472648	22472648	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:22472648C>T	ENST00000308511.4	+	11	1454				RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Intron|CCAR2_ENST00000520861.1_Intron			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CCTCTGGTGCCTCAGGGTAGG	0.607																																																	0																																										SO:0001627	intron_variant	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1205+134C>T	8.37:g.22472648C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	RNA	SNP	-	NULL	ENST00000308511.4	37	NULL	CCDS34863.1	8																																																																																			RP11-582J16.5	-	-		0.607	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253200	Clone_based_vega_gene	protein_coding	OTTHUMT00000375865.1	C	NM_021174		22472648	-1	no_errors	ENST00000521025	ensembl	human	known	70_37	rna	SNP	0.000	T
RN7SKP201	0	genome.wustl.edu	37	8	36124115	36124115	+	RNA	SNP	A	A	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:36124115A>T	ENST00000516854.1	+	0	113									RNA, 7SK small nuclear pseudogene 201																		CAAAGCTGAGAGTTTGGTCAA	0.383																																																	0																																												0					8p12	2013-03-19			ENSG00000252663				45925	pseudogene	RNA, pseudogene							Standard			Approved						8.37:g.36124115A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000516854.1	37	NULL		8																																																																																			7SK	-	-		0.383	RN7SKP201-201	KNOWN	basic	misc_RNA	ENSG00000252663	RFAM	misc_RNA		A			36124115	+1	no_errors	ENST00000516854	ensembl	human	novel	70_37	rna	SNP	0.030	T
RP11-30J20.1	0	genome.wustl.edu	37	8	137822062	137822062	+	lincRNA	SNP	G	G	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:137822062G>T	ENST00000521090.1	+	0	556																											AAAAGCATGAGAAACCATCAT	0.403																																																	0																																												0																															8.37:g.137822062G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000521090.1	37	NULL		8																																																																																			RP11-30J20.1	-	-		0.403	RP11-30J20.1-004	KNOWN	basic	lincRNA	ENSG00000254101	Clone_based_vega_gene	lincRNA	OTTHUMT00000377406.1	G			137822062	+1	no_errors	ENST00000521090	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-360K13.1	0	genome.wustl.edu	37	11	96584391	96584392	+	lincRNA	INS	-	-	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:96584391_96584392insT	ENST00000527528.1	+	0	1216_1217																											TTTTATTTTTATTTTTTTCTGT	0.312																																																	0																																												0																															11.37:g.96584398_96584398dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000527528.1	37	NULL		11																																																																																			RP11-360K13.1	-	-		0.312	RP11-360K13.1-001	KNOWN	basic	lincRNA	ENSG00000254587	Clone_based_vega_gene	lincRNA	OTTHUMT00000395474.1	-			96584392	+1	no_errors	ENST00000527528	ensembl	human	known	70_37	rna	INS	0.004:0.002	T
ATP5L	10632	genome.wustl.edu	37	11	118272367	118272367	+	5'UTR	SNP	T	T	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:118272367T>C	ENST00000300688.3	+	0	499				RP11-770J1.5_ENST00000534438.1_Missense_Mutation_p.R6G|RP11-770J1.5_ENST00000531742.1_5'Flank|ATP5L_ENST00000524422.1_5'UTR|ATP5L_ENST00000529770.1_3'UTR	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G						ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		CGACGGACTCTCCATTCCAGA	0.657																																																	0													42.0	39.0	40.0					11																	118272367		2200	4296	6496	SO:0001623	5_prime_UTR_variant	0			AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.-14T>C	11.37:g.118272367T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	NULL	p.R6G	ENST00000300688.3	37	c.16	CCDS8397.1	11	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192306	0.38707	.	.	ENSG00000254873	ENST00000534438	.	.	.	6.17	-3.63	0.04529	.	.	.	.	.	T	0.32526	0.0832	.	.	.	0.20196	N	0.999922	.	.	.	.	.	.	T	0.42258	-0.9462	5	0.87932	D	0	.	2.4651	0.04551	0.1172:0.3196:0.1206:0.4425	.	.	.	.	G	6	.	ENSP00000433775:R6G	R	-	1	2	RP11-770J1.5	117777577	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.209000	0.03002	-0.541000	0.06257	-2.166000	0.00325	AGA	RP11-770J1.5	-	NULL		0.657	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254873	Clone_based_vega_gene	protein_coding	OTTHUMT00000389220.1	T	NM_006476		118272367	-1	no_errors	ENST00000534438	ensembl	human	putative	70_37	missense	SNP	0.000	C
RP11-159D23.2	0	genome.wustl.edu	37	14	32399318	32399318	+	lincRNA	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr14:32399318C>T	ENST00000550309.1	-	0	34																											AGATCGGTGTCCACTTAGACA	0.443																																																	0																																												0																															14.37:g.32399318C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000550309.1	37	NULL		14																																																																																			RP11-159D23.2	-	-		0.443	RP11-159D23.2-001	KNOWN	basic	lincRNA	ENSG00000257472	Clone_based_vega_gene	lincRNA	OTTHUMT00000409549.1	C			32399318	-1	no_errors	ENST00000550309	ensembl	human	known	70_37	rna	SNP	0.001	T
RP11-299H22.7	0	genome.wustl.edu	37	15	62577194	62577195	+	lincRNA	INS	-	-	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:62577194_62577195insT	ENST00000569913.1	+	0	581_582																											tttccttcgggttttttgattg	0.342																																																	0																																												0																															15.37:g.62577200_62577200dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000569913.1	37	NULL		15																																																																																			RP11-299H22.7	-	-		0.342	RP11-299H22.7-001	KNOWN	basic	lincRNA	ENSG00000260957	Clone_based_vega_gene	lincRNA	OTTHUMT00000422151.1	-			62577195	+1	no_errors	ENST00000569913	ensembl	human	known	70_37	rna	INS	0.003:0.008	T
RP11-854K16.3	0	genome.wustl.edu	37	15	21335238	21335238	+	lincRNA	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:21335238C>G	ENST00000568414.1	-	0	186																											tggcaggactcttagccttcc	0.493																																																	0																																												0																															15.37:g.21335238C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000568414.1	37	NULL		15																																																																																			RP11-854K16.3	-	-		0.493	RP11-854K16.3-001	KNOWN	basic	lincRNA	ENSG00000260986	Clone_based_vega_gene	lincRNA	OTTHUMT00000431552.1	C			21335238	-1	no_errors	ENST00000568414	ensembl	human	known	70_37	rna	SNP	0.206	G
ZFP90	146198	genome.wustl.edu	37	16	68598744	68598745	+	3'UTR	INS	-	-	TTT	rs34979386|rs386384983|rs386384982	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:68598744_68598745insTTT	ENST00000570495.1	+	0	2346_2347				ZFP90_ENST00000563169.2_3'UTR|ZFP90_ENST00000398253.2_3'UTR			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein						negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CAGTAGACAGATTTTTTTTTTT	0.371														3840	0.766773	0.7375	0.755	5008	,	,		18012	0.8105		0.7873	False		,,,				2504	0.7485																0																																										SO:0001624	3_prime_UTR_variant	0			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.*144->TTT	16.37:g.68598751_68598753dupTTT		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU00|B3KVE7|Q49AD1|Q96MQ6	RNA	INS	-	NULL	ENST00000570495.1	37	NULL	CCDS42183.1	16																																																																																			RP11-615I2.7	-	-		0.371	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262820	Clone_based_vega_gene	protein_coding	OTTHUMT00000436217.3	-	XM_085375		68598745	+1	no_errors	ENST00000571720	ensembl	human	known	70_37	rna	INS	0.000:0.001	TTT
SLC16A6P1	440459	genome.wustl.edu	37	17	62940075	62940075	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:62940075G>A	ENST00000583416.1	+	0	696				RP11-927P21.11_ENST00000606688.1_RNA|SLC16A6P1_ENST00000577423.1_RNA																							ACAAAGGACAGAAAAATAAAT	0.398																																																	0																																												0																															17.37:g.62940075G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000583416.1	37	NULL		17																																																																																			RP11-583F2.2	-	-		0.398	RP11-583F2.2-001	KNOWN	basic	lincRNA	ENSG00000265912	Clone_based_vega_gene	lincRNA	OTTHUMT00000445719.1	G			62940075	+1	no_errors	ENST00000583416	ensembl	human	known	70_37	rna	SNP	0.059	A
MBD3	53615	genome.wustl.edu	37	19	1574297	1574298	+	IGR	INS	-	-	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:1574297_1574298insA	ENST00000434436.3	-	0	2498				AC005943.5_ENST00000588960.1_lincRNA	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3						ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		gactccatctcaaaaaaaaaaC	0.52																																																	0																																										SO:0001628	intergenic_variant	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983			19.37:g.1574307_1574307dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	RNA	INS	-	NULL	ENST00000434436.3	37	NULL	CCDS12072.1	19																																																																																			AC005943.5	-	-		0.520	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267161	Clone_based_vega_gene	protein_coding	OTTHUMT00000449658.2	-	NM_003926		1574298	-1	no_errors	ENST00000588960	ensembl	human	known	70_37	rna	INS	0.110:0.112	A
LINC01224	104472717	genome.wustl.edu	37	19	23588839	23588839	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:23588839G>A	ENST00000596283.1	-	0	262																											aatctcctctgagggcaggga	0.483																																																	0																																												0																															19.37:g.23588839G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000596283.1	37	NULL		19																																																																																			CTB-175P5.4	-	-		0.483	CTB-175P5.4-002	KNOWN	basic	lincRNA	ENSG00000269416	Clone_based_vega_gene	lincRNA	OTTHUMT00000465898.1	G			23588839	-1	no_errors	ENST00000596283	ensembl	human	known	70_37	rna	SNP	0.026	A
EZH2	2146	genome.wustl.edu	37	7	148515119	148515119	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:148515119G>A	ENST00000460911.1	-	10	1163	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	EZH2_ENST00000476773.1_Missense_Mutation_p.P350S|EZH2_ENST00000541220.1_Missense_Mutation_p.P350S|EZH2_ENST00000350995.2_Missense_Mutation_p.P320S|EZH2_ENST00000478654.1_Missense_Mutation_p.P350S|EZH2_ENST00000483967.1_Missense_Mutation_p.P350S|RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000320356.2_Missense_Mutation_p.P364S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	359	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTGTTATTGGGAAGCCGTCCT	0.547			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													130.0	119.0	123.0					7																	148515119		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1075C>T	7.37:g.148515119G>A	ENSP00000419711:p.Pro359Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.P364S	ENST00000460911.1	37	c.1090	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	g	15.01	2.706340	0.48412	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.78	5.78	0.91487	.	0.056664	0.64402	D	0.000001	D	0.84275	0.5436	L	0.40543	1.245	0.80722	D	1	D;B;B;B;B;B	0.89917	1.0;0.203;0.012;0.129;0.203;0.313	D;B;B;B;B;B	0.83275	0.996;0.098;0.015;0.071;0.149;0.178	T	0.76586	-0.2905	10	0.02654	T	1	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	359;350;350;359;320;364	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	350;364;359;320;350;350;350	ENSP00000417062:P350S;ENSP00000320147:P364S;ENSP00000419711:P359S;ENSP00000223193:P320S;ENSP00000443219:P350S;ENSP00000419050:P350S;ENSP00000419856:P350S	ENSP00000320147:P364S	P	-	1	0	EZH2	148146052	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	7.200000	0.77838	2.724000	0.93272	0.563000	0.77884	CCC	EZH2	-	NULL		0.547	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	G	NM_004456		148515119	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	missense	SNP	1.000	A
EZH2	2146	genome.wustl.edu	37	7	148515119	148515119	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:148515119G>A	ENST00000460911.1	-	10	1163	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	EZH2_ENST00000476773.1_Missense_Mutation_p.P350S|EZH2_ENST00000541220.1_Missense_Mutation_p.P350S|EZH2_ENST00000350995.2_Missense_Mutation_p.P320S|EZH2_ENST00000478654.1_Missense_Mutation_p.P350S|EZH2_ENST00000483967.1_Missense_Mutation_p.P350S|RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000320356.2_Missense_Mutation_p.P364S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	359	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTGTTATTGGGAAGCCGTCCT	0.547			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													130.0	119.0	123.0					7																	148515119		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1075C>T	7.37:g.148515119G>A	ENSP00000419711:p.Pro359Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.P364S	ENST00000460911.1	37	c.1090	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	g	15.01	2.706340	0.48412	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.78	5.78	0.91487	.	0.056664	0.64402	D	0.000001	D	0.84275	0.5436	L	0.40543	1.245	0.80722	D	1	D;B;B;B;B;B	0.89917	1.0;0.203;0.012;0.129;0.203;0.313	D;B;B;B;B;B	0.83275	0.996;0.098;0.015;0.071;0.149;0.178	T	0.76586	-0.2905	10	0.02654	T	1	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	359;350;350;359;320;364	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	350;364;359;320;350;350;350	ENSP00000417062:P350S;ENSP00000320147:P364S;ENSP00000419711:P359S;ENSP00000223193:P320S;ENSP00000443219:P350S;ENSP00000419050:P350S;ENSP00000419856:P350S	ENSP00000320147:P364S	P	-	1	0	EZH2	148146052	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	7.200000	0.77838	2.724000	0.93272	0.563000	0.77884	CCC	EZH2	-	NULL		0.547	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	G	NM_004456		148515119	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM189A1	23359	genome.wustl.edu	37	15	29861726	29861726	+	Intron	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:29861726G>A	ENST00000261275.4	-	1	219				FAM189A1_ENST00000560050.1_5'UTR	NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1							integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						AAGCCTATGCGATGTATTTCA	0.348																																																	0																																										SO:0001627	intron_variant	23359				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.219+982C>T	15.37:g.29861726G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK09	RNA	SNP	-	NULL	ENST00000261275.4	37	NULL	CCDS45198.1	15																																																																																			FAM189A1	-	-		0.348	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1	G	NM_015307		29861726	-1	no_errors	ENST00000560050	ensembl	human	known	70_37	rna	SNP	0.000	A
FAM214A	56204	genome.wustl.edu	37	15	52901518	52901518	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:52901518C>T	ENST00000261844.7	-	6	1745	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L	FAM214A_ENST00000546305.2_Silent_p.L538L	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	531																	TATTTTTCTTCAACAAATTTT	0.378																																																	0													69.0	66.0	67.0					15																	52901518		1831	4097	5928	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1593G>A	15.37:g.52901518C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.L531	ENST00000261844.7	37	c.1593	CCDS45263.1	15																																																																																			FAM214A	-	NULL		0.378	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52901518	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	silent	SNP	0.988	T
FAM214A	56204	genome.wustl.edu	37	15	52901518	52901518	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:52901518C>T	ENST00000261844.7	-	6	1745	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L	FAM214A_ENST00000546305.2_Silent_p.L538L	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	531																	TATTTTTCTTCAACAAATTTT	0.378																																																	0													69.0	66.0	67.0					15																	52901518		1831	4097	5928	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1593G>A	15.37:g.52901518C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.L531	ENST00000261844.7	37	c.1593	CCDS45263.1	15																																																																																			FAM214A	-	NULL		0.378	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52901518	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	silent	SNP	0.988	T
FAM65C	140876	genome.wustl.edu	37	20	49226185	49226185	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr20:49226185G>A	ENST00000327979.2	-	7	900	c.489C>T	c.(487-489)ttC>ttT	p.F163F	FAM65C_ENST00000535356.1_Silent_p.F167F|FAM65C_ENST00000045083.2_Silent_p.F163F			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	163										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCACCGGGCGAAGGCCCGCT	0.736																																																	0													5.0	6.0	5.0					20																	49226185		1982	3877	5859	SO:0001819	synonymous_variant	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.489C>T	20.37:g.49226185G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.F167	ENST00000327979.2	37	c.501	CCDS13431.2	20																																																																																			FAM65C	-	NULL		0.736	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	G			49226185	-1	no_errors	ENST00000535356	ensembl	human	known	70_37	silent	SNP	0.946	A
FBXW7	55294	genome.wustl.edu	37	4	153245393	153245393	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:153245393C>T	ENST00000281708.4	-	11	3027	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	FBXW7_ENST00000296555.5_Missense_Mutation_p.D482N|FBXW7_ENST00000263981.5_Missense_Mutation_p.D520N|FBXW7_ENST00000603548.1_Missense_Mutation_p.D600N|FBXW7_ENST00000393956.3_Missense_Mutation_p.D424N|FBXW7_ENST00000603841.1_Missense_Mutation_p.D600N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	600					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.D600Y(2)|p.D520Y(1)|p.D361Y(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTGTAGAATCTGCATTCCCA	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)											125.0	116.0	119.0					4																	153245393		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1798G>A	4.37:g.153245393C>T	ENSP00000281708:p.Asp600Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D600N	ENST00000281708.4	37	c.1798	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.413587	0.96072	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96525	0.9388	10	0.87932	D	0	-19.794	19.2767	0.94034	0.0:1.0:0.0:0.0	.	424;600;482;520	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	N	600;482;520;424	ENSP00000281708:D600N;ENSP00000296555:D482N;ENSP00000263981:D520N;ENSP00000377528:D424N	ENSP00000263981:D520N	D	-	1	0	FBXW7	153464843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	GAT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153245393	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXW7	55294	genome.wustl.edu	37	4	153245393	153245393	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:153245393C>T	ENST00000281708.4	-	11	3027	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	FBXW7_ENST00000296555.5_Missense_Mutation_p.D482N|FBXW7_ENST00000263981.5_Missense_Mutation_p.D520N|FBXW7_ENST00000603548.1_Missense_Mutation_p.D600N|FBXW7_ENST00000393956.3_Missense_Mutation_p.D424N|FBXW7_ENST00000603841.1_Missense_Mutation_p.D600N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	600					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.D600Y(2)|p.D520Y(1)|p.D361Y(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTGTAGAATCTGCATTCCCA	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)											125.0	116.0	119.0					4																	153245393		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1798G>A	4.37:g.153245393C>T	ENSP00000281708:p.Asp600Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D600N	ENST00000281708.4	37	c.1798	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.413587	0.96072	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96525	0.9388	10	0.87932	D	0	-19.794	19.2767	0.94034	0.0:1.0:0.0:0.0	.	424;600;482;520	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	N	600;482;520;424	ENSP00000281708:D600N;ENSP00000296555:D482N;ENSP00000263981:D520N;ENSP00000377528:D424N	ENSP00000263981:D520N	D	-	1	0	FBXW7	153464843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	GAT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153245393	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T
FN1	2335	genome.wustl.edu	37	2	216272840	216272840	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:216272840G>A	ENST00000359671.1	-	17	2774	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	FN1_ENST00000345488.5_Missense_Mutation_p.P837S|FN1_ENST00000443816.1_Missense_Mutation_p.P837S|FN1_ENST00000357867.4_Missense_Mutation_p.P837S|FN1_ENST00000421182.1_Missense_Mutation_p.P837S|FN1_ENST00000446046.1_Missense_Mutation_p.P837S|FN1_ENST00000336916.4_Missense_Mutation_p.P837S|FN1_ENST00000356005.4_Missense_Mutation_p.P837S|FN1_ENST00000432072.2_Missense_Mutation_p.P837S|FN1_ENST00000323926.6_Missense_Mutation_p.P837S|FN1_ENST00000346544.3_Missense_Mutation_p.P837S|FN1_ENST00000357009.2_Missense_Mutation_p.P837S|FN1_ENST00000354785.4_Missense_Mutation_p.P837S			P02751	FINC_HUMAN	fibronectin 1	837	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCTGTGATGGGAGCCTGGGGT	0.527																																																	0													82.0	88.0	86.0					2																	216272840		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2509C>T	2.37:g.216272840G>A	ENSP00000352696:p.Pro837Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.P837S	ENST00000359671.1	37	c.2509		2	.	.	.	.	.	.	.	.	.	.	G	35	5.468878	0.96274	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000002	T	0.75932	0.3917	M	0.62154	1.92	0.80722	D	1	D;D;B;D;D;D;D;D;D;D	0.76494	0.999;0.969;0.094;0.999;0.999;0.964;0.999;0.999;0.999;0.999	D;D;B;D;D;D;D;D;D;D	0.91635	0.998;0.918;0.113;0.997;0.998;0.915;0.999;0.997;0.997;0.998	T	0.75964	-0.3132	10	0.72032	D	0.01	.	20.3212	0.98679	0.0:0.0:1.0:0.0	.	837;837;837;837;837;837;837;837;837;837	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	S	837	ENSP00000394423:P837S;ENSP00000323534:P837S;ENSP00000338200:P837S;ENSP00000350534:P837S;ENSP00000346839:P837S;ENSP00000352696:P837S;ENSP00000265312:P837S;ENSP00000273049:P837S;ENSP00000349509:P837S;ENSP00000410422:P837S;ENSP00000415018:P837S;ENSP00000399538:P837S;ENSP00000348285:P837S	ENSP00000265313:P837S	P	-	1	0	FN1	215981085	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	9.869000	0.99810	2.810000	0.96702	0.650000	0.86243	CCC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216272840	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216272840	216272840	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:216272840G>A	ENST00000359671.1	-	17	2774	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	FN1_ENST00000345488.5_Missense_Mutation_p.P837S|FN1_ENST00000443816.1_Missense_Mutation_p.P837S|FN1_ENST00000357867.4_Missense_Mutation_p.P837S|FN1_ENST00000421182.1_Missense_Mutation_p.P837S|FN1_ENST00000446046.1_Missense_Mutation_p.P837S|FN1_ENST00000336916.4_Missense_Mutation_p.P837S|FN1_ENST00000356005.4_Missense_Mutation_p.P837S|FN1_ENST00000432072.2_Missense_Mutation_p.P837S|FN1_ENST00000323926.6_Missense_Mutation_p.P837S|FN1_ENST00000346544.3_Missense_Mutation_p.P837S|FN1_ENST00000357009.2_Missense_Mutation_p.P837S|FN1_ENST00000354785.4_Missense_Mutation_p.P837S			P02751	FINC_HUMAN	fibronectin 1	837	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCTGTGATGGGAGCCTGGGGT	0.527																																																	0													82.0	88.0	86.0					2																	216272840		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2509C>T	2.37:g.216272840G>A	ENSP00000352696:p.Pro837Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.P837S	ENST00000359671.1	37	c.2509		2	.	.	.	.	.	.	.	.	.	.	G	35	5.468878	0.96274	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000002	T	0.75932	0.3917	M	0.62154	1.92	0.80722	D	1	D;D;B;D;D;D;D;D;D;D	0.76494	0.999;0.969;0.094;0.999;0.999;0.964;0.999;0.999;0.999;0.999	D;D;B;D;D;D;D;D;D;D	0.91635	0.998;0.918;0.113;0.997;0.998;0.915;0.999;0.997;0.997;0.998	T	0.75964	-0.3132	10	0.72032	D	0.01	.	20.3212	0.98679	0.0:0.0:1.0:0.0	.	837;837;837;837;837;837;837;837;837;837	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	S	837	ENSP00000394423:P837S;ENSP00000323534:P837S;ENSP00000338200:P837S;ENSP00000350534:P837S;ENSP00000346839:P837S;ENSP00000352696:P837S;ENSP00000265312:P837S;ENSP00000273049:P837S;ENSP00000349509:P837S;ENSP00000410422:P837S;ENSP00000415018:P837S;ENSP00000399538:P837S;ENSP00000348285:P837S	ENSP00000265313:P837S	P	-	1	0	FN1	215981085	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	9.869000	0.99810	2.810000	0.96702	0.650000	0.86243	CCC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216272840	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216272872	216272872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:216272872G>C	ENST00000359671.1	-	17	2742	c.2477C>G	c.(2476-2478)tCa>tGa	p.S826*	FN1_ENST00000345488.5_Nonsense_Mutation_p.S826*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S826*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S826*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S826*|FN1_ENST00000446046.1_Nonsense_Mutation_p.S826*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S826*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S826*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S826*|FN1_ENST00000323926.6_Nonsense_Mutation_p.S826*|FN1_ENST00000346544.3_Nonsense_Mutation_p.S826*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S826*|FN1_ENST00000354785.4_Nonsense_Mutation_p.S826*			P02751	FINC_HUMAN	fibronectin 1	826	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AACAACAATTGAGGTGTCATC	0.522																																																	0													88.0	92.0	91.0					2																	216272872		2203	4300	6503	SO:0001587	stop_gained	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2477C>G	2.37:g.216272872G>C	ENSP00000352696:p.Ser826*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.S826*	ENST00000359671.1	37	c.2477		2	.	.	.	.	.	.	.	.	.	.	G	43	10.517703	0.99420	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	826	.	ENSP00000265313:S826X	S	-	2	0	FN1	215981117	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	TCA	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.522	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216272872	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	nonsense	SNP	1.000	C
FN1	2335	genome.wustl.edu	37	2	216272872	216272872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:216272872G>C	ENST00000359671.1	-	17	2742	c.2477C>G	c.(2476-2478)tCa>tGa	p.S826*	FN1_ENST00000345488.5_Nonsense_Mutation_p.S826*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S826*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S826*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S826*|FN1_ENST00000446046.1_Nonsense_Mutation_p.S826*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S826*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S826*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S826*|FN1_ENST00000323926.6_Nonsense_Mutation_p.S826*|FN1_ENST00000346544.3_Nonsense_Mutation_p.S826*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S826*|FN1_ENST00000354785.4_Nonsense_Mutation_p.S826*			P02751	FINC_HUMAN	fibronectin 1	826	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AACAACAATTGAGGTGTCATC	0.522																																																	0													88.0	92.0	91.0					2																	216272872		2203	4300	6503	SO:0001587	stop_gained	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2477C>G	2.37:g.216272872G>C	ENSP00000352696:p.Ser826*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.S826*	ENST00000359671.1	37	c.2477		2	.	.	.	.	.	.	.	.	.	.	G	43	10.517703	0.99420	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	826	.	ENSP00000265313:S826X	S	-	2	0	FN1	215981117	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	TCA	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.522	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216272872	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	nonsense	SNP	1.000	C
GK5	256356	genome.wustl.edu	37	3	141900366	141900366	+	Missense_Mutation	SNP	C	C	T	rs377316725		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:141900366C>T	ENST00000392993.2	-	11	1136	c.985G>A	c.(985-987)Gta>Ata	p.V329I		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	329					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GCTAAGCATACGACTTCTTGC	0.383																																																	0								C	ILE/VAL	0,4406		0,0,2203	115.0	108.0	110.0		985	4.9	0.6	3		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	GK5	NM_001039547.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	329/530	141900366	1,13005	2203	4300	6503	SO:0001583	missense	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.985G>A	3.37:g.141900366C>T	ENSP00000418001:p.Val329Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.V329I	ENST00000392993.2	37	c.985	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762490	0.49574	0.0	1.16E-4	ENSG00000175066	ENST00000392993	D	0.90133	-2.62	4.93	4.93	0.64822	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.45422	1.42	0.80722	D	1	B	0.27416	0.178	B	0.24394	0.053	D	0.83788	0.0229	10	0.48119	T	0.1	-19.0821	11.5746	0.50854	0.0:0.912:0.0:0.088	.	329	Q6ZS86	GLPK5_HUMAN	I	329	ENSP00000418001:V329I	ENSP00000418001:V329I	V	-	1	0	GK5	143383056	1.000000	0.71417	0.575000	0.28536	0.993000	0.82548	4.005000	0.57075	2.415000	0.81967	0.591000	0.81541	GTA	GK5	-	pfam_Carb_kinase_FGGY_C		0.383	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	C	NM_001039547		141900366	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	missense	SNP	1.000	T
GK5	256356	genome.wustl.edu	37	3	141900366	141900366	+	Missense_Mutation	SNP	C	C	T	rs377316725		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:141900366C>T	ENST00000392993.2	-	11	1136	c.985G>A	c.(985-987)Gta>Ata	p.V329I		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	329					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GCTAAGCATACGACTTCTTGC	0.383																																																	0								C	ILE/VAL	0,4406		0,0,2203	115.0	108.0	110.0		985	4.9	0.6	3		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	GK5	NM_001039547.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	329/530	141900366	1,13005	2203	4300	6503	SO:0001583	missense	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.985G>A	3.37:g.141900366C>T	ENSP00000418001:p.Val329Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.V329I	ENST00000392993.2	37	c.985	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762490	0.49574	0.0	1.16E-4	ENSG00000175066	ENST00000392993	D	0.90133	-2.62	4.93	4.93	0.64822	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.45422	1.42	0.80722	D	1	B	0.27416	0.178	B	0.24394	0.053	D	0.83788	0.0229	10	0.48119	T	0.1	-19.0821	11.5746	0.50854	0.0:0.912:0.0:0.088	.	329	Q6ZS86	GLPK5_HUMAN	I	329	ENSP00000418001:V329I	ENSP00000418001:V329I	V	-	1	0	GK5	143383056	1.000000	0.71417	0.575000	0.28536	0.993000	0.82548	4.005000	0.57075	2.415000	0.81967	0.591000	0.81541	GTA	GK5	-	pfam_Carb_kinase_FGGY_C		0.383	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	C	NM_001039547		141900366	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA8S	653061	genome.wustl.edu	37	15	23605405	23605405	+	Silent	SNP	G	G	A	rs543752018		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:23605405G>A	ENST00000562295.1	+	9	618	c.618G>A	c.(616-618)acG>acA	p.T206T						golgin A8 family, member S									p.T206T(2)									AAGCACGTACGGAGTGGAAGT	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19180	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	lung(2)																																								SO:0001819	synonymous_variant	653061					15q11.2	2013-01-17			ENSG00000261739	ENSG00000261739			44409	other	unknown							Standard	NR_038843		Approved		uc021sfv.2		OTTHUMG00000176415	ENST00000562295.1:c.618G>A	15.37:g.23605405G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.T206	ENST00000562295.1	37	c.618		15																																																																																			GOLGA8S	-	NULL		0.572	GOLGA8S-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8S	HGNC	protein_coding	OTTHUMT00000431934.1	G	NR_038843		23605405	+1	no_errors	ENST00000562295	ensembl	human	novel	70_37	silent	SNP	0.000	A
GOLGA8S	653061	genome.wustl.edu	37	15	23605405	23605405	+	Silent	SNP	G	G	A	rs543752018		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:23605405G>A	ENST00000562295.1	+	9	618	c.618G>A	c.(616-618)acG>acA	p.T206T						golgin A8 family, member S									p.T206T(2)									AAGCACGTACGGAGTGGAAGT	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19180	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	lung(2)																																								SO:0001819	synonymous_variant	653061					15q11.2	2013-01-17			ENSG00000261739	ENSG00000261739			44409	other	unknown							Standard	NR_038843		Approved		uc021sfv.2		OTTHUMG00000176415	ENST00000562295.1:c.618G>A	15.37:g.23605405G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.T206	ENST00000562295.1	37	c.618		15																																																																																			GOLGA8S	-	NULL		0.572	GOLGA8S-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8S	HGNC	protein_coding	OTTHUMT00000431934.1	G	NR_038843		23605405	+1	no_errors	ENST00000562295	ensembl	human	novel	70_37	silent	SNP	0.000	A
GRASP	160622	genome.wustl.edu	37	12	52408588	52408588	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:52408588G>A	ENST00000293662.4	+	8	873	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Missense_Mutation_p.V122M|GRASP_ENST00000552049.1_Missense_Mutation_p.V122M	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	265					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCTGCTCGCCGTGCCCGGGCG	0.751																																																	0													2.0	3.0	2.0					12																	52408588		1554	3116	4670	SO:0001583	missense	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.793G>A	12.37:g.52408588G>A	ENSP00000293662:p.Val265Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIF8|Q7Z741	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V265M	ENST00000293662.4	37	c.793	CCDS8817.1	12	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905443	0.52333	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T	0.55588	0.51;0.92	3.36	3.36	0.38483	.	0.242826	0.39274	N	0.001405	T	0.27454	0.0674	N	0.08118	0	0.09310	N	1	P;P	0.40660	0.726;0.606	B;B	0.32342	0.144;0.068	T	0.20472	-1.0274	10	0.49607	T	0.09	-6.2621	11.7264	0.51712	0.0:0.0:1.0:0.0	.	122;265	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	M	265;122;135;122	ENSP00000293662:V265M;ENSP00000448476:V135M	ENSP00000293662:V265M	V	+	1	0	GRASP	50694855	0.056000	0.20664	0.004000	0.12327	0.960000	0.62799	2.414000	0.44627	1.708000	0.51301	0.455000	0.32223	GTG	GRASP	-	NULL		0.751	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	G			52408588	+1	no_errors	ENST00000293662	ensembl	human	known	70_37	missense	SNP	0.004	A
SLC6A6	6533	genome.wustl.edu	37	3	14530659	14530659	+	3'UTR	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:14530659G>A	ENST00000454876.2	+	0	6336				SLC6A6_ENST00000360861.3_3'UTR|GRIP2_ENST00000273083.3_RNA			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCCTTGGTGTGTAGTTCAGTC	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	80852				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.*4144G>A	3.37:g.14530659G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNU7|Q9BRI2|Q9BXB0	RNA	SNP	-	NULL	ENST00000454876.2	37	NULL	CCDS33705.1	3																																																																																			GRIP2	-	-		0.279	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP2	HGNC	protein_coding	OTTHUMT00000340507.1	G	NM_003043		14530659	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.965	A
HCCAT5	283902	genome.wustl.edu	37	16	73126796	73126796	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:73126796G>A	ENST00000569990.2	+	0	549					NR_027756.1				hepatocellular carcinoma associated transcript 5 (non-protein coding)																		TGTGTCCCACGCGCTCCTGTT	0.527																																																	0													187.0	158.0	167.0					16																	73126796		692	1591	2283			283902					16q22.3	2014-06-20			ENSG00000260880	ENSG00000260880		"""Long non-coding RNAs"""	48612	non-coding RNA	RNA, long non-coding	"""hepatoma associated gene"""	615613				20130911, 23314567	Standard	NR_027756		Approved	HTA, FJ222407			OTTHUMG00000172964		16.37:g.73126796G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569990.2	37	NULL		16																																																																																			RP11-346C20.2	-	-		0.527	HCCAT5-001	KNOWN	basic	lincRNA	HTA	Clone_based_vega_gene	lincRNA	OTTHUMT00000440524.1	G	NR_027756		73126796	+1	no_errors	ENST00000569990	ensembl	human	known	70_37	rna	SNP	0.000	A
ITPKB	3707	genome.wustl.edu	37	1	226844732	226844732	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:226844732C>T	ENST00000272117.3	-	2	1932				ITPKB-IT1_ENST00000412918.1_RNA|ITPKB_ENST00000429204.1_Intron			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B						cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGGGCCTGATCGTGGCCAGTG	0.468																																					Colon(84;110 1851 5306 33547)												0																																										SO:0001627	intron_variant	100506443			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1933-8260G>A	1.37:g.226844732C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	RNA	SNP	-	NULL	ENST00000272117.3	37	NULL	CCDS1555.1	1																																																																																			ITPKB-IT1	-	-		0.468	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB-IT1	HGNC	protein_coding	OTTHUMT00000091632.1	C	NM_002221		226844732	-1	no_errors	ENST00000412918	ensembl	human	known	70_37	rna	SNP	0.000	T
KANK1	23189	genome.wustl.edu	37	9	731209	731209	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:731209G>A	ENST00000382303.1	+	9	3600	c.2948G>A	c.(2947-2949)gGt>gAt	p.G983D	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.G983D|KANK1_ENST00000382293.3_Missense_Mutation_p.G825D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	983	Nuclear localization signal 2 (NLS 2).				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAGAAAGATGGTAACAAAGAT	0.378																																																	0													141.0	126.0	131.0					9																	731209		2203	4300	6503	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2948G>A	9.37:g.731209G>A	ENSP00000371740:p.Gly983Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G983D	ENST00000382303.1	37	c.2948	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942253	0.73672	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	T;T;T	0.16324	2.35;2.35;2.35	5.62	3.77	0.43336	.	0.110980	0.40469	N	0.001099	T	0.25827	0.0629	L	0.51422	1.61	0.80722	D	1	D	0.54964	0.969	P	0.56823	0.807	T	0.01081	-1.1458	10	0.39692	T	0.17	.	8.0144	0.30372	0.1393:0.1399:0.7208:0.0	.	983	Q14678	KANK1_HUMAN	D	983;6;983;825	ENSP00000371740:G983D;ENSP00000371734:G983D;ENSP00000371730:G825D	ENSP00000371730:G825D	G	+	2	0	KANK1	721209	1.000000	0.71417	0.434000	0.26772	0.976000	0.68499	4.760000	0.62235	0.824000	0.34613	0.650000	0.86243	GGT	KANK1	-	smart_Ankyrin_rpt		0.378	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	G	NM_015158		731209	+1	no_errors	ENST00000382297	ensembl	human	known	70_37	missense	SNP	1.000	A
KANK1	23189	genome.wustl.edu	37	9	731209	731209	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:731209G>A	ENST00000382303.1	+	9	3600	c.2948G>A	c.(2947-2949)gGt>gAt	p.G983D	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.G983D|KANK1_ENST00000382293.3_Missense_Mutation_p.G825D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	983	Nuclear localization signal 2 (NLS 2).				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAGAAAGATGGTAACAAAGAT	0.378																																																	0													141.0	126.0	131.0					9																	731209		2203	4300	6503	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2948G>A	9.37:g.731209G>A	ENSP00000371740:p.Gly983Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G983D	ENST00000382303.1	37	c.2948	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942253	0.73672	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	T;T;T	0.16324	2.35;2.35;2.35	5.62	3.77	0.43336	.	0.110980	0.40469	N	0.001099	T	0.25827	0.0629	L	0.51422	1.61	0.80722	D	1	D	0.54964	0.969	P	0.56823	0.807	T	0.01081	-1.1458	10	0.39692	T	0.17	.	8.0144	0.30372	0.1393:0.1399:0.7208:0.0	.	983	Q14678	KANK1_HUMAN	D	983;6;983;825	ENSP00000371740:G983D;ENSP00000371734:G983D;ENSP00000371730:G825D	ENSP00000371730:G825D	G	+	2	0	KANK1	721209	1.000000	0.71417	0.434000	0.26772	0.976000	0.68499	4.760000	0.62235	0.824000	0.34613	0.650000	0.86243	GGT	KANK1	-	smart_Ankyrin_rpt		0.378	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	G	NM_015158		731209	+1	no_errors	ENST00000382297	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0907	22889	genome.wustl.edu	37	1	155886623	155886623	+	Intron	SNP	A	A	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:155886623A>C	ENST00000368321.3	-	12	1464				KIAA0907_ENST00000368320.3_Intron	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907								RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CATCTTTCTGATAAGTTGTAG	0.373																																																	0																																										SO:0001627	intron_variant	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1441-95T>G	1.37:g.155886623A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	RNA	SNP	-	NULL	ENST00000368321.3	37	NULL	CCDS30885.1	1																																																																																			KIAA0907	-	-		0.373	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	A	NM_014949		155886623	-1	no_errors	ENST00000465953	ensembl	human	known	70_37	rna	SNP	0.182	C
KIAA0907	22889	genome.wustl.edu	37	1	155886623	155886623	+	Intron	SNP	A	A	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:155886623A>C	ENST00000368321.3	-	12	1464				KIAA0907_ENST00000368320.3_Intron	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907								RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CATCTTTCTGATAAGTTGTAG	0.373																																																	0																																										SO:0001627	intron_variant	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1441-95T>G	1.37:g.155886623A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	RNA	SNP	-	NULL	ENST00000368321.3	37	NULL	CCDS30885.1	1																																																																																			KIAA0907	-	-		0.373	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	A	NM_014949		155886623	-1	no_errors	ENST00000465953	ensembl	human	known	70_37	rna	SNP	0.182	C
KLHL1	57626	genome.wustl.edu	37	13	70681587	70681587	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr13:70681587G>A	ENST00000377844.4	-	1	1004	c.245C>T	c.(244-246)cCg>cTg	p.P82L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	82	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ggaagaggacggggaggacga	0.597																																																	0													74.0	78.0	77.0					13																	70681587		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.245C>T	13.37:g.70681587G>A	ENSP00000367075:p.Pro82Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P82L	ENST00000377844.4	37	c.245	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160869	0.21538	.	.	ENSG00000150361	ENST00000377844	T	0.71817	-0.6	5.41	4.53	0.55603	.	1.268240	0.05384	N	0.537761	T	0.57961	0.2089	N	0.14661	0.345	0.80722	D	1	B;B	0.28605	0.217;0.103	B;B	0.17098	0.017;0.017	T	0.24225	-1.0166	10	0.39692	T	0.17	.	14.6373	0.68699	0.0:0.1443:0.8557:0.0	.	82;82	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	82	ENSP00000367075:P82L	ENSP00000367075:P82L	P	-	2	0	KLHL1	69579588	0.010000	0.17322	0.351000	0.25721	0.614000	0.37383	1.669000	0.37492	2.549000	0.85964	0.650000	0.86243	CCG	KLHL1	-	NULL		0.597	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70681587	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	0.862	A
KLHL1	57626	genome.wustl.edu	37	13	70681587	70681587	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr13:70681587G>A	ENST00000377844.4	-	1	1004	c.245C>T	c.(244-246)cCg>cTg	p.P82L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	82	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ggaagaggacggggaggacga	0.597																																																	0													74.0	78.0	77.0					13																	70681587		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.245C>T	13.37:g.70681587G>A	ENSP00000367075:p.Pro82Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P82L	ENST00000377844.4	37	c.245	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160869	0.21538	.	.	ENSG00000150361	ENST00000377844	T	0.71817	-0.6	5.41	4.53	0.55603	.	1.268240	0.05384	N	0.537761	T	0.57961	0.2089	N	0.14661	0.345	0.80722	D	1	B;B	0.28605	0.217;0.103	B;B	0.17098	0.017;0.017	T	0.24225	-1.0166	10	0.39692	T	0.17	.	14.6373	0.68699	0.0:0.1443:0.8557:0.0	.	82;82	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	82	ENSP00000367075:P82L	ENSP00000367075:P82L	P	-	2	0	KLHL1	69579588	0.010000	0.17322	0.351000	0.25721	0.614000	0.37383	1.669000	0.37492	2.549000	0.85964	0.650000	0.86243	CCG	KLHL1	-	NULL		0.597	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70681587	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	0.862	A
LDLRAD4	753	genome.wustl.edu	37	18	13615492	13615492	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr18:13615492C>T	ENST00000359446.5	+	4	649				LDLRAD4_ENST00000361205.4_Intron|LDLRAD4_ENST00000590308.1_3'UTR|LDLRAD4_ENST00000587757.1_Intron|LDLRAD4_ENST00000585931.1_Intron|LDLRAD4_ENST00000586765.1_Intron|LDLRAD4_ENST00000399848.3_Intron	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										TTAAAAATAGCGCAGACACTC	0.438																																																	0																																										SO:0001627	intron_variant	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.182-5624C>T	18.37:g.13615492C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	RNA	SNP	-	NULL	ENST00000359446.5	37	NULL	CCDS32793.1	18																																																																																			LDLRAD4	-	-		0.438	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	C	NM_181481		13615492	+1	no_errors	ENST00000590308	ensembl	human	known	70_37	rna	SNP	0.001	T
LILRB4	11006	genome.wustl.edu	37	19	55160122	55160122	+	3'UTR	SNP	T	T	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:55160122T>C	ENST00000461839.1	+	0	718							Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4						immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTCTAGCTGGTATTTTATCAC	0.517																																																	0																																										SO:0001624	3_prime_UTR_variant	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000461839.1:c.*715T>C	19.37:g.55160122T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	RNA	SNP	-	NULL	ENST00000461839.1	37	NULL		19																																																																																			LILRB4	-	-		0.517	LILRB4-011	KNOWN	basic	processed_transcript	LILRB4	HGNC	protein_coding	OTTHUMT00000140851.1	T			55160122	+1	no_errors	ENST00000461839	ensembl	human	known	70_37	rna	SNP	0.000	C
LINC00283	100874057	genome.wustl.edu	37	13	103396796	103396796	+	RNA	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr13:103396796C>T	ENST00000430111.1	+	0	1169									long intergenic non-protein coding RNA 283																		CTTTGATTTCCCTGTTTTGGG	0.368																																																	0													137.0	116.0	122.0					13																	103396796		692	1591	2283			100874057					13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103396796C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000430111.1	37	NULL		13																																																																																			LINC00283	-	-		0.368	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	LINC00283	HGNC	antisense	OTTHUMT00000045714.1	C			103396796	+1	no_errors	ENST00000430111	ensembl	human	known	70_37	rna	SNP	0.000	T
RBPMS	11030	genome.wustl.edu	37	8	30240880	30240881	+	5'Flank	INS	-	-	AAA	rs533454990|rs201076216	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:30240880_30240881insAAA	ENST00000320203.4	+	0	0				RBPMS_ENST00000287771.5_5'Flank|RBPMS_ENST00000397323.4_5'Flank|RBPMS_ENST00000520161.1_5'Flank|RBPMS_ENST00000538486.1_5'Flank|RBPMS_ENST00000339877.4_5'Flank|RBPMS_ENST00000517860.1_5'Flank|RBPMS-AS1_ENST00000523643.1_RNA|RBPMS-AS1_ENST00000517521.1_RNA|RBPMS-AS1_ENST00000519753.1_RNA	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		ctcatttttctaaaaaaaaaaa	0.391																																																	0																																										SO:0001631	upstream_gene_variant	100128750			D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845		8.37:g.30240887_30240889dupAAA	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSU9|Q92516|Q92517|Q92518|Q96J26	Splice_Site	INS	-	NULL	ENST00000320203.4	37	c.NULL	CCDS6077.1	8																																																																																			CTD-3107M8.4	-	-		0.391	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100128750	Clone_based_vega_gene	protein_coding	OTTHUMT00000376357.2	-			30240881	-1	no_errors	ENST00000519753	ensembl	human	known	70_37	splice_site_ins	INS	0.000:0.000	AAA
LOC100129345	100129345	genome.wustl.edu	37	14	98099162	98099162	+	lincRNA	SNP	A	A	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr14:98099162A>T	ENST00000355909.3	-	0	1491					NR_033943.1																						ataaaggtaaaggcaaaatag	0.254																																																	0																																												100129345																															14.37:g.98099162A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000355909.3	37	NULL		14																																																																																			RP11-76E12.1	-	-		0.254	RP11-76E12.1-001	KNOWN	basic	lincRNA	LOC100129345	Clone_based_vega_gene	lincRNA	OTTHUMT00000413543.2	A			98099162	-1	no_errors	ENST00000355909	ensembl	human	known	70_37	rna	SNP	0.000	T
PKD1P1	339044	genome.wustl.edu	37	16	16418925	16418925	+	3'UTR	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:16418925C>T	ENST00000537112.1	+	0	932					NR_036447.1																						CGCTGGTGTACGCCCTGCTGC	0.682																																																	0																																										SO:0001624	3_prime_UTR_variant	100288332																														ENST00000537112.1:c.*929C>T	16.37:g.16418925C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000537112.1	37	NULL		16																																																																																			PKD1P1	-	-		0.682	AC138969.4-005	KNOWN	non_canonical_other|basic	processed_transcript	LOC100288332	Uniprot_genename	protein_coding	OTTHUMT00000399242.1	C			16418925	+1	no_errors	ENST00000537112	ensembl	human	known	70_37	rna	SNP	1.000	T
LINC01304	100505964	genome.wustl.edu	37	2	4021503	4021503	+	lincRNA	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:4021503G>A	ENST00000454455.1	-	0	157					NR_037881.1																						CTGGAATGTGGCCAACCTTTG	0.537																																																	0																																												100505964																															2.37:g.4021503G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000454455.1	37	NULL		2																																																																																			AC107070.1	-	-		0.537	AC107070.1-002	KNOWN	basic	lincRNA	LOC100505964	Clone_based_vega_gene	lincRNA	OTTHUMT00000322859.1	G			4021503	-1	no_errors	ENST00000425949	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC01016	100507584	genome.wustl.edu	37	6	33858825	33858825	+	lincRNA	SNP	C	C	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:33858825C>A	ENST00000506222.2	-	0	1613					NR_038989.1				long intergenic non-protein coding RNA 1016																		cagaataaatctcttcaaata	0.463																																																	0																																												100507584					6p21.31	2013-07-25			ENSG00000249346	ENSG00000249346		"""Long non-coding RNAs"""	48991	non-coding RNA	RNA, long non-coding							Standard	NR_038989		Approved				OTTHUMG00000166297		6.37:g.33858825C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000506222.2	37	NULL		6																																																																																			RP3-468B3.3	-	-		0.463	LINC01016-001	KNOWN	basic	lincRNA	LOC100507584	Clone_based_vega_gene	lincRNA	OTTHUMT00000389017.3	C			33858825	-1	no_errors	ENST00000506222	ensembl	human	known	70_37	rna	SNP	0.209	A
SLC25A16	8034	genome.wustl.edu	37	10	70239894	70239894	+	3'UTR	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:70239894G>A	ENST00000609923.1	-	0	4392				SLC25A16_ENST00000265870.3_5'Flank	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16						coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CCAGACCACTGTCCCATTCTA	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	100996629			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.*3295C>T	10.37:g.70239894G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2U1	RNA	SNP	-	NULL	ENST00000609923.1	37	NULL	CCDS7280.1	10																																																																																			RP11-9E13.2	-	-		0.373	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100996629	Clone_based_vega_gene	protein_coding	OTTHUMT00000048347.2	G			70239894	-1	no_errors	ENST00000439904	ensembl	human	known	70_37	rna	SNP	0.009	A
LINC01566	283914	genome.wustl.edu	37	16	34616850	34616850	+	lincRNA	SNP	G	G	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:34616850G>T	ENST00000569242.1	+	0	1484					NR_027079.1																						tcaacaagatgaggtccctga	0.313																																																	0																																												283914																															16.37:g.34616850G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569242.1	37	NULL		16																																																																																			RP11-488I20.3	-	-		0.313	RP11-488I20.3-002	KNOWN	basic	lincRNA	LOC283914	Clone_based_vega_gene	lincRNA	OTTHUMT00000431678.1	G			34616850	+1	no_errors	ENST00000569242	ensembl	human	known	70_37	rna	SNP	0.049	T
CASC16	643714	genome.wustl.edu	37	16	52640667	52640668	+	lincRNA	INS	-	-	AA	rs141528707|rs71141201|rs549821952|rs77196340|rs398029378	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:52640667_52640668insAA	ENST00000510238.3	-	0	179_180				RP11-297L17.3_ENST00000565771.1_lincRNA|RP11-297L17.2_ENST00000565153.1_lincRNA	NR_033920.1				cancer susceptibility candidate 16 (non-protein coding)																		tgttaaatttcaaaaaaaaaaa	0.347																																																	0																																												643714			BC034767, DB462404, DB523777		16q12.1	2013-12-05	2013-07-17	2013-07-17	ENSG00000249231	ENSG00000249231		"""Long non-coding RNAs"""	48608	non-coding RNA	RNA, long non-coding			"""long intergenic non-protein coding RNA 918"""	LINC00918			Standard	NR_033920		Approved	LOC643714			OTTHUMG00000173223		16.37:g.52640676_52640677dupAA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000510238.3	37	NULL		16																																																																																			RP11-297L17.1	-	-		0.347	CASC16-001	KNOWN	basic	lincRNA	LOC643714	Clone_based_vega_gene	lincRNA	OTTHUMT00000422537.2	-	NR_033920		52640668	-1	no_errors	ENST00000510238	ensembl	human	known	70_37	rna	INS	0.000:0.000	AA
ENTPD1	953	genome.wustl.edu	37	10	97514014	97514014	+	5'Flank	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:97514014G>A	ENST00000371205.4	+	0	0				ENTPD1_ENST00000371207.3_5'Flank|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_5'Flank|ENTPD1_ENST00000453258.2_Intron|ENTPD1_ENST00000539125.1_5'Flank|ENTPD1_ENST00000371203.5_5'Flank			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		gcagtaagctgagatggctcc	0.463																																																	0																																										SO:0001631	upstream_gene_variant	728558			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818		10.37:g.97514014G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	RNA	SNP	-	NULL	ENST00000371205.4	37	NULL	CCDS7444.1	10																																																																																			RP11-429G19.2	-	-		0.463	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728558	Clone_based_vega_gene	protein_coding	OTTHUMT00000049566.1	G	NM_001776		97514014	-1	no_errors	ENST00000416301	ensembl	human	known	70_37	rna	SNP	0.004	A
NPIPB4	440345	genome.wustl.edu	37	16	21854826	21854826	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:21854826G>A	ENST00000415645.2	-	4	465	c.426C>T	c.(424-426)gtC>gtT	p.V142V	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Silent_p.V142V|NPIPB4_ENST00000451409.1_5'UTR			C9JG80	NPIB4_HUMAN	nuclear pore complex interacting protein family, member B4	142						integral component of membrane (GO:0016021)											GTAGAGTAATGACGTCTTTCA	0.398																																																	0																																										SO:0001819	synonymous_variant	728888					16p12.2	2013-06-11			ENSG00000185864	ENSG00000185864			41985	protein-coding gene	gene with protein product							Standard	XM_006721108		Approved			C9JG80	OTTHUMG00000163555	ENST00000415645.2:c.426C>T	16.37:g.21854826G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_NPIP	p.V142	ENST00000415645.2	37	c.426		16																																																																																			61E3.4	-	pfam_NPIP		0.398	NPIPB4-202	KNOWN	basic|appris_principal	protein_coding	LOC728888	Uniprot_genename	protein_coding		G			21854826	-1	no_errors	ENST00000415645	ensembl	human	known	70_37	silent	SNP	0.000	A
NPIPB4	440345	genome.wustl.edu	37	16	21854826	21854826	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr16:21854826G>A	ENST00000415645.2	-	4	465	c.426C>T	c.(424-426)gtC>gtT	p.V142V	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Silent_p.V142V|NPIPB4_ENST00000451409.1_5'UTR			C9JG80	NPIB4_HUMAN	nuclear pore complex interacting protein family, member B4	142						integral component of membrane (GO:0016021)											GTAGAGTAATGACGTCTTTCA	0.398																																																	0																																										SO:0001819	synonymous_variant	728888					16p12.2	2013-06-11			ENSG00000185864	ENSG00000185864			41985	protein-coding gene	gene with protein product							Standard	XM_006721108		Approved			C9JG80	OTTHUMG00000163555	ENST00000415645.2:c.426C>T	16.37:g.21854826G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_NPIP	p.V142	ENST00000415645.2	37	c.426		16																																																																																			61E3.4	-	pfam_NPIP		0.398	NPIPB4-202	KNOWN	basic|appris_principal	protein_coding	LOC728888	Uniprot_genename	protein_coding		G			21854826	-1	no_errors	ENST00000415645	ensembl	human	known	70_37	silent	SNP	0.000	A
LRP6	4040	genome.wustl.edu	37	12	12337018	12337018	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:12337018C>G	ENST00000261349.4	-	5	948	c.872G>C	c.(871-873)gGg>gCg	p.G291A	LRP6_ENST00000543091.1_Missense_Mutation_p.G291A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	291	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGAACAACCCCCATTGTCAAT	0.388																																																	0													102.0	90.0	94.0					12																	12337018		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.872G>C	12.37:g.12337018C>G	ENSP00000261349:p.Gly291Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G291A	ENST00000261349.4	37	c.872	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944548	0.92593	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.98329	-4.87;-4.87	5.85	5.85	0.93711	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000007	D	0.99211	0.9726	M	0.91300	3.195	0.80722	D	1	D;P	0.89917	1.0;0.596	D;B	0.85130	0.997;0.285	D	0.99078	1.0836	10	0.46703	T	0.11	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	291;291	F5H7J9;O75581	.;LRP6_HUMAN	A	291	ENSP00000261349:G291A;ENSP00000442472:G291A	ENSP00000261349:G291A	G	-	2	0	LRP6	12228285	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.860000	0.69546	2.773000	0.95371	0.655000	0.94253	GGG	LRP6	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.388	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	C			12337018	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP6	4040	genome.wustl.edu	37	12	12337018	12337018	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:12337018C>G	ENST00000261349.4	-	5	948	c.872G>C	c.(871-873)gGg>gCg	p.G291A	LRP6_ENST00000543091.1_Missense_Mutation_p.G291A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	291	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGAACAACCCCCATTGTCAAT	0.388																																																	0													102.0	90.0	94.0					12																	12337018		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.872G>C	12.37:g.12337018C>G	ENSP00000261349:p.Gly291Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G291A	ENST00000261349.4	37	c.872	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944548	0.92593	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.98329	-4.87;-4.87	5.85	5.85	0.93711	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000007	D	0.99211	0.9726	M	0.91300	3.195	0.80722	D	1	D;P	0.89917	1.0;0.596	D;B	0.85130	0.997;0.285	D	0.99078	1.0836	10	0.46703	T	0.11	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	291;291	F5H7J9;O75581	.;LRP6_HUMAN	A	291	ENSP00000261349:G291A;ENSP00000442472:G291A	ENSP00000261349:G291A	G	-	2	0	LRP6	12228285	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.860000	0.69546	2.773000	0.95371	0.655000	0.94253	GGG	LRP6	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.388	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	C			12337018	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC27	80313	genome.wustl.edu	37	10	134189077	134189077	+	3'UTR	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:134189077C>T	ENST00000368614.3	+	0	2029				LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_3'UTR|LRRC27_ENST00000392638.2_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAAGTACTCACAGCTTTCC	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	80313			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.*331C>T	10.37:g.134189077C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	RNA	SNP	-	NULL	ENST00000368614.3	37	NULL	CCDS31316.1	10																																																																																			LRRC27	-	-		0.547	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	C	XM_290462		134189077	+1	no_errors	ENST00000475747	ensembl	human	known	70_37	rna	SNP	0.000	T
MAATS1	89876	genome.wustl.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	rs139653997	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:119462963C>T	ENST00000273390.5	+	14	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	444						mitochondrion (GO:0005739)		p.R608W(1)									GCGCCAGCGGCGGGTACGAGA	0.587																																																	1	Substitution - Missense(1)	lung(1)						C	TRP/ARG	0,4406		0,0,2203	75.0	71.0	72.0		1822	-1.9	1.0	3	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf15	NM_033364.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	608/768	119462963	1,13005	2203	4300	6503	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1822C>T	3.37:g.119462963C>T	ENSP00000273390:p.Arg608Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.R608W	ENST00000273390.5	37	c.1822	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220628	0.79464	0.0	1.16E-4	ENSG00000183833	ENST00000273390	T	0.27104	1.69	5.65	-1.85	0.07784	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.51317	-0.8721	10	0.66056	D	0.02	-12.1187	17.4717	0.87647	0.5747:0.4253:0.0:0.0	.	444;546;608	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	W	608	ENSP00000273390:R608W	ENSP00000273390:R608W	R	+	1	2	C3orf15	120945653	0.989000	0.36119	0.974000	0.42286	0.852000	0.48524	1.072000	0.30678	-0.312000	0.08741	-0.516000	0.04426	CGG	MAATS1	-	NULL		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	C	NM_033364		119462963	+1	no_errors	ENST00000273390	ensembl	human	known	70_37	missense	SNP	0.968	T
MAATS1	89876	genome.wustl.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	rs139653997	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:119462963C>T	ENST00000273390.5	+	14	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	444						mitochondrion (GO:0005739)		p.R608W(1)									GCGCCAGCGGCGGGTACGAGA	0.587																																																	1	Substitution - Missense(1)	lung(1)						C	TRP/ARG	0,4406		0,0,2203	75.0	71.0	72.0		1822	-1.9	1.0	3	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf15	NM_033364.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	608/768	119462963	1,13005	2203	4300	6503	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1822C>T	3.37:g.119462963C>T	ENSP00000273390:p.Arg608Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.R608W	ENST00000273390.5	37	c.1822	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220628	0.79464	0.0	1.16E-4	ENSG00000183833	ENST00000273390	T	0.27104	1.69	5.65	-1.85	0.07784	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.51317	-0.8721	10	0.66056	D	0.02	-12.1187	17.4717	0.87647	0.5747:0.4253:0.0:0.0	.	444;546;608	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	W	608	ENSP00000273390:R608W	ENSP00000273390:R608W	R	+	1	2	C3orf15	120945653	0.989000	0.36119	0.974000	0.42286	0.852000	0.48524	1.072000	0.30678	-0.312000	0.08741	-0.516000	0.04426	CGG	MAATS1	-	NULL		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	C	NM_033364		119462963	+1	no_errors	ENST00000273390	ensembl	human	known	70_37	missense	SNP	0.968	T
MAMLD1	10046	genome.wustl.edu	37	X	149638349	149638349	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:149638349C>T	ENST00000370401.2	+	4	814	c.504C>T	c.(502-504)agC>agT	p.S168S	MAMLD1_ENST00000432680.2_Silent_p.S143S|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.S168S|MAMLD1_ENST00000426613.2_Silent_p.S143S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	168					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCAACAGCGTGCCGGCTG	0.478																																																	0													63.0	61.0	62.0					X																	149638349		2203	4300	6503	SO:0001819	synonymous_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.504C>T	X.37:g.149638349C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCQ4|B4DG93|B9EGA5	Silent	SNP	NULL	p.S143	ENST00000370401.2	37	c.429	CCDS14693.2	X																																																																																			MAMLD1	-	NULL		0.478	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	C	NM_005491		149638349	+1	no_errors	ENST00000432680	ensembl	human	known	70_37	silent	SNP	0.000	T
MLXIPL	51085	genome.wustl.edu	37	7	73010041	73010041	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:73010041G>A	ENST00000313375.3	-	15	2283	c.2236C>T	c.(2236-2238)Cgt>Tgt	p.R746C	MLXIPL_ENST00000414749.2_Missense_Mutation_p.R744C|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R652C|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R653C|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R725C|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R727C	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	746					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGTCAAAACGCTGGTGTGTG	0.632																																																	0													114.0	104.0	107.0					7																	73010041		2203	4300	6503	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2236C>T	7.37:g.73010041G>A	ENSP00000320886:p.Arg746Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R746C	ENST00000313375.3	37	c.2236	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330985	0.81690	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.27890	2.25;2.31;2.26;2.3;1.66;1.64	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.72353	2.195	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.982;0.995;0.996;0.996	T	0.59402	-0.7461	10	0.87932	D	0	-17.6366	13.8778	0.63665	0.0:0.0:1.0:0.0	.	653;746;727;744;725	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	C	744;727;746;725;653;652	ENSP00000412330:R744C;ENSP00000406296:R727C;ENSP00000320886:R746C;ENSP00000346629:R725C;ENSP00000378616:R653C;ENSP00000392636:R652C	ENSP00000320886:R746C	R	-	1	0	MLXIPL	72647977	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.369000	0.66138	2.109000	0.64355	0.456000	0.33151	CGT	MLXIPL	-	NULL		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	G	NM_032951		73010041	-1	no_errors	ENST00000313375	ensembl	human	known	70_37	missense	SNP	1.000	A
MLXIPL	51085	genome.wustl.edu	37	7	73010041	73010041	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:73010041G>A	ENST00000313375.3	-	15	2283	c.2236C>T	c.(2236-2238)Cgt>Tgt	p.R746C	MLXIPL_ENST00000414749.2_Missense_Mutation_p.R744C|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R652C|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R653C|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R725C|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R727C	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	746					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGTCAAAACGCTGGTGTGTG	0.632																																																	0													114.0	104.0	107.0					7																	73010041		2203	4300	6503	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2236C>T	7.37:g.73010041G>A	ENSP00000320886:p.Arg746Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R746C	ENST00000313375.3	37	c.2236	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330985	0.81690	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.27890	2.25;2.31;2.26;2.3;1.66;1.64	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.72353	2.195	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.982;0.995;0.996;0.996	T	0.59402	-0.7461	10	0.87932	D	0	-17.6366	13.8778	0.63665	0.0:0.0:1.0:0.0	.	653;746;727;744;725	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	C	744;727;746;725;653;652	ENSP00000412330:R744C;ENSP00000406296:R727C;ENSP00000320886:R746C;ENSP00000346629:R725C;ENSP00000378616:R653C;ENSP00000392636:R652C	ENSP00000320886:R746C	R	-	1	0	MLXIPL	72647977	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.369000	0.66138	2.109000	0.64355	0.456000	0.33151	CGT	MLXIPL	-	NULL		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	G	NM_032951		73010041	-1	no_errors	ENST00000313375	ensembl	human	known	70_37	missense	SNP	1.000	A
MT-ND5	4540	genome.wustl.edu	37	M	12994	12994	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrM:12994G>A	ENST00000361567.2	+	1	658	c.658G>A	c.(658-660)Gca>Aca	p.A220T	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	220					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCCTCCTAGCAGCAGCAGGCA	0.527																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.658G>A	M.37:g.12994G>A	ENSP00000354813:p.Ala220Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.A220T	ENST00000361567.2	37	c.658		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.527	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		12994	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	A
MTHFR	4524	genome.wustl.edu	37	1	11854118	11854118	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:11854118G>A	ENST00000376592.1	-	8	1504	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	MTHFR_ENST00000376583.3_Missense_Mutation_p.P500L|MTHFR_ENST00000376585.1_Missense_Mutation_p.P500L|MTHFR_ENST00000376590.3_Missense_Mutation_p.P459L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	459					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AGCCGCCAGGGGCTCATCGTT	0.647																																																	0													72.0	75.0	74.0					1																	11854118		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1376C>T	1.37:g.11854118G>A	ENSP00000365777:p.Pro459Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.P500L	ENST00000376592.1	37	c.1499	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307133	0.81247	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80031	0.4549	M	0.86502	2.82	0.80722	D	1	D;D	0.62365	0.967;0.991	P;P	0.54060	0.67;0.741	D	0.84828	0.0800	10	0.66056	D	0.02	.	16.659	0.85236	0.0:0.0:1.0:0.0	.	459;500	P42898;Q5SNW6	MTHR_HUMAN;.	L	459;500;459;500	ENSP00000365777:P459L;ENSP00000365767:P500L;ENSP00000365775:P459L;ENSP00000365770:P500L	ENSP00000365767:P500L	P	-	2	0	MTHFR	11776705	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	9.338000	0.96553	2.176000	0.68965	0.455000	0.32223	CCC	MTHFR	-	NULL		0.647	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	G	NM_005957		11854118	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	missense	SNP	1.000	A
MTHFR	4524	genome.wustl.edu	37	1	11854118	11854118	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:11854118G>A	ENST00000376592.1	-	8	1504	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	MTHFR_ENST00000376583.3_Missense_Mutation_p.P500L|MTHFR_ENST00000376585.1_Missense_Mutation_p.P500L|MTHFR_ENST00000376590.3_Missense_Mutation_p.P459L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	459					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AGCCGCCAGGGGCTCATCGTT	0.647																																																	0													72.0	75.0	74.0					1																	11854118		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1376C>T	1.37:g.11854118G>A	ENSP00000365777:p.Pro459Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.P500L	ENST00000376592.1	37	c.1499	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307133	0.81247	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80031	0.4549	M	0.86502	2.82	0.80722	D	1	D;D	0.62365	0.967;0.991	P;P	0.54060	0.67;0.741	D	0.84828	0.0800	10	0.66056	D	0.02	.	16.659	0.85236	0.0:0.0:1.0:0.0	.	459;500	P42898;Q5SNW6	MTHR_HUMAN;.	L	459;500;459;500	ENSP00000365777:P459L;ENSP00000365767:P500L;ENSP00000365775:P459L;ENSP00000365770:P500L	ENSP00000365767:P500L	P	-	2	0	MTHFR	11776705	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	9.338000	0.96553	2.176000	0.68965	0.455000	0.32223	CCC	MTHFR	-	NULL		0.647	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	G	NM_005957		11854118	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	missense	SNP	1.000	A
NDST2	8509	genome.wustl.edu	37	10	75568597	75568598	+	Intron	INS	-	-	A	rs200096570|rs79478385		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:75568597_75568598insA	ENST00000309979.6	-	3	216				NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Intron|RP11-574K11.31_ENST00000603027.1_Intron			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AATCTGTTCTCAAAAAAAAAAA	0.396																																																	0																																										SO:0001627	intron_variant	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.341-110->T	10.37:g.75568608_75568608dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB32|Q59H89	RNA	INS	-	NULL	ENST00000309979.6	37	NULL	CCDS7335.1	10																																																																																			NDST2	-	-		0.396	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	NM_003635		75568598	-1	no_errors	ENST00000465929	ensembl	human	known	70_37	rna	INS	0.595:0.250	A
NXN	64359	genome.wustl.edu	37	17	833205	833206	+	Intron	INS	-	-	AA	rs35867746|rs199583325|rs369780586|rs71371595	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:833205_833206insAA	ENST00000336868.3	-	1	452					NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin						cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTGAACTACAGAAAAAAAAAAA	0.366																																																	0																																										SO:0001627	intron_variant	64359				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.360+49352->TT	17.37:g.833214_833215dupAA		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	RNA	INS	-	NULL	ENST00000336868.3	37	NULL	CCDS10998.1	17																																																																																			NXN	-	-		0.366	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	-			833206	-1	no_errors	ENST00000571338	ensembl	human	known	70_37	rna	INS	0.000:0.000	AA
NEURL4	84461	genome.wustl.edu	37	17	7230490	7230490	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:7230490G>A	ENST00000399464.2	-	3	802	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	NEURL4_ENST00000570460.1_Intron|NEURL4_ENST00000315614.7_Missense_Mutation_p.H263Y	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	263						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACCATTATGCGACTCAAGG	0.632																																																	0													39.0	43.0	42.0					17																	7230490		1977	4138	6115	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.787C>T	17.37:g.7230490G>A	ENSP00000382390:p.His263Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.H263Y	ENST00000399464.2	37	c.787	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	7.606	0.673755	0.14841	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.31769	1.49;1.48	4.96	1.51	0.23008	.	0.217725	0.38272	N	0.001744	T	0.12987	0.0315	N	0.08118	0	0.80722	D	1	B;B	0.28128	0.201;0.127	B;B	0.22601	0.04;0.018	T	0.08146	-1.0736	10	0.42905	T	0.14	-4.6164	7.0469	0.25050	0.0:0.2429:0.449:0.3081	.	263;263	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Y	263	ENSP00000319826:H263Y;ENSP00000382390:H263Y	ENSP00000319826:H263Y	H	-	1	0	NEURL4	7171214	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.543000	0.45752	0.725000	0.32318	0.655000	0.94253	CAT	NEURL4	-	NULL		0.632	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	G	NM_032442		7230490	-1	no_errors	ENST00000399464	ensembl	human	known	70_37	missense	SNP	0.999	A
NEURL4	84461	genome.wustl.edu	37	17	7230490	7230490	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:7230490G>A	ENST00000399464.2	-	3	802	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	NEURL4_ENST00000570460.1_Intron|NEURL4_ENST00000315614.7_Missense_Mutation_p.H263Y	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	263						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACCATTATGCGACTCAAGG	0.632																																																	0													39.0	43.0	42.0					17																	7230490		1977	4138	6115	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.787C>T	17.37:g.7230490G>A	ENSP00000382390:p.His263Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.H263Y	ENST00000399464.2	37	c.787	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	7.606	0.673755	0.14841	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.31769	1.49;1.48	4.96	1.51	0.23008	.	0.217725	0.38272	N	0.001744	T	0.12987	0.0315	N	0.08118	0	0.80722	D	1	B;B	0.28128	0.201;0.127	B;B	0.22601	0.04;0.018	T	0.08146	-1.0736	10	0.42905	T	0.14	-4.6164	7.0469	0.25050	0.0:0.2429:0.449:0.3081	.	263;263	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Y	263	ENSP00000319826:H263Y;ENSP00000382390:H263Y	ENSP00000319826:H263Y	H	-	1	0	NEURL4	7171214	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.543000	0.45752	0.725000	0.32318	0.655000	0.94253	CAT	NEURL4	-	NULL		0.632	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	G	NM_032442		7230490	-1	no_errors	ENST00000399464	ensembl	human	known	70_37	missense	SNP	0.999	A
OLFM2	93145	genome.wustl.edu	37	19	9965242	9965242	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:9965242C>T	ENST00000264833.4	-	6	1170	c.985G>A	c.(985-987)Gag>Aag	p.E329K	OLFM2_ENST00000590841.1_Missense_Mutation_p.E251K	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	329	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGCCCGCTCTCGTCCACCATG	0.652																																																	0													61.0	60.0	60.0					19																	9965242		2203	4300	6503	SO:0001583	missense	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.985G>A	19.37:g.9965242C>T	ENSP00000264833:p.Glu329Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	p.E329K	ENST00000264833.4	37	c.985	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.118351	0.94385	.	.	ENSG00000105088	ENST00000264833	D	0.93763	-3.28	4.6	4.6	0.57074	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.98413	1.0573	9	.	.	.	.	14.9484	0.71050	0.0:1.0:0.0:0.0	.	329	O95897	NOE2_HUMAN	K	329	ENSP00000264833:E329K	.	E	-	1	0	OLFM2	9826242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.556000	0.82233	2.357000	0.79964	0.561000	0.74099	GAG	OLFM2	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like		0.652	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1	C			9965242	-1	no_errors	ENST00000264833	ensembl	human	known	70_37	missense	SNP	1.000	T
OLFM2	93145	genome.wustl.edu	37	19	9965242	9965242	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:9965242C>T	ENST00000264833.4	-	6	1170	c.985G>A	c.(985-987)Gag>Aag	p.E329K	OLFM2_ENST00000590841.1_Missense_Mutation_p.E251K	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	329	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGCCCGCTCTCGTCCACCATG	0.652																																																	0													61.0	60.0	60.0					19																	9965242		2203	4300	6503	SO:0001583	missense	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.985G>A	19.37:g.9965242C>T	ENSP00000264833:p.Glu329Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	p.E329K	ENST00000264833.4	37	c.985	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.118351	0.94385	.	.	ENSG00000105088	ENST00000264833	D	0.93763	-3.28	4.6	4.6	0.57074	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.98413	1.0573	9	.	.	.	.	14.9484	0.71050	0.0:1.0:0.0:0.0	.	329	O95897	NOE2_HUMAN	K	329	ENSP00000264833:E329K	.	E	-	1	0	OLFM2	9826242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.556000	0.82233	2.357000	0.79964	0.561000	0.74099	GAG	OLFM2	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like		0.652	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1	C			9965242	-1	no_errors	ENST00000264833	ensembl	human	known	70_37	missense	SNP	1.000	T
IPCEF1	26034	genome.wustl.edu	37	6	154567919	154567919	+	Intron	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:154567919G>C	ENST00000265198.4	-	5	229				IPCEF1_ENST00000367220.4_Intron|IPCEF1_ENST00000422970.2_Intron|OPRM1_ENST00000337049.4_Nonstop_Mutation_p.*419Y|IPCEF1_ENST00000519344.1_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1						oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGAAGAGGTAGATAATGTATT	0.428																																																	0													69.0	63.0	65.0					6																	154567919		2203	4300	6503	SO:0001627	intron_variant	4988			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.74-25C>G	6.37:g.154567919G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Nonstop_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt,prints_Galanin_rcpt	p.*419Y	ENST00000265198.4	37	c.1257	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.878911	0.00537	.	.	ENSG00000112038	ENST00000337049	.	.	.	2.88	-4.28	0.03732	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4595	0.02392	0.2886:0.2496:0.3357:0.1261	.	.	.	.	Y	419	.	.	X	+	3	2	OPRM1	154609611	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.958000	0.03857	-1.708000	0.01401	-1.164000	0.01763	TAG	OPRM1	-	NULL		0.428	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042789.2	G	NM_001130699		154567919	+1	no_errors	ENST00000337049	ensembl	human	known	70_37	nonstop	SNP	0.000	C
IPCEF1	26034	genome.wustl.edu	37	6	154567919	154567919	+	Intron	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:154567919G>C	ENST00000265198.4	-	5	229				IPCEF1_ENST00000367220.4_Intron|IPCEF1_ENST00000422970.2_Intron|OPRM1_ENST00000337049.4_Nonstop_Mutation_p.*419Y|IPCEF1_ENST00000519344.1_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1						oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGAAGAGGTAGATAATGTATT	0.428																																																	0													69.0	63.0	65.0					6																	154567919		2203	4300	6503	SO:0001627	intron_variant	4988			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.74-25C>G	6.37:g.154567919G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Nonstop_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt,prints_Galanin_rcpt	p.*419Y	ENST00000265198.4	37	c.1257	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.878911	0.00537	.	.	ENSG00000112038	ENST00000337049	.	.	.	2.88	-4.28	0.03732	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4595	0.02392	0.2886:0.2496:0.3357:0.1261	.	.	.	.	Y	419	.	.	X	+	3	2	OPRM1	154609611	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.958000	0.03857	-1.708000	0.01401	-1.164000	0.01763	TAG	OPRM1	-	NULL		0.428	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042789.2	G	NM_001130699		154567919	+1	no_errors	ENST00000337049	ensembl	human	known	70_37	nonstop	SNP	0.000	C
OTOP1	133060	genome.wustl.edu	37	4	4228450	4228450	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:4228450C>T	ENST00000296358.4	-	1	166	c.142G>A	c.(142-144)Ggt>Agt	p.G48S		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	48					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGCGCACAccgccccgccgg	0.736																																																	0													5.0	5.0	5.0					4																	4228450		2074	4051	6125	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.142G>A	4.37:g.4228450C>T	ENSP00000296358:p.Gly48Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.G48S	ENST00000296358.4	37	c.142	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008630	0.35415	.	.	ENSG00000163982	ENST00000296358	T	0.07444	3.19	3.92	-1.9	0.07665	.	0.754957	0.11525	U	0.555300	T	0.02119	0.0066	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43653	-0.9378	10	0.05959	T	0.93	.	0.3855	0.00402	0.2685:0.3197:0.1544:0.2574	.	48	Q7RTM1	OTOP1_HUMAN	S	48	ENSP00000296358:G48S	ENSP00000296358:G48S	G	-	1	0	OTOP1	4279351	0.666000	0.27475	0.002000	0.10522	0.071000	0.16799	0.311000	0.19380	-0.156000	0.11079	0.430000	0.28490	GGT	OTOP1	-	NULL		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	C	NM_177998		4228450	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	0.000	T
PAOX	196743	genome.wustl.edu	37	10	135193640	135193640	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:135193640C>T	ENST00000278060.5	+	2	402	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000480071.2_Missense_Mutation_p.H107Y|PAOX_ENST00000357296.3_Missense_Mutation_p.H107Y	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	245					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GACCGGGGGTCACGTGGGCCT	0.677																																																	0													27.0	29.0	28.0					10																	135193640		2191	4295	6486	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.319C>T	10.37:g.135193640C>T	ENSP00000278060:p.His107Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.H107Y	ENST00000278060.5	37	c.319	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903884	0.72754	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92299	-3.01;-3.01;-3.01	4.88	4.88	0.63580	.	0.128218	0.51477	D	0.000083	D	0.93585	0.7952	L	0.43598	1.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.982;0.987;0.982	D	0.91857	0.5496	10	0.24483	T	0.36	-29.5562	15.5336	0.75983	0.0:1.0:0.0:0.0	.	107;107;107	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	Y	107	ENSP00000278060:H107Y;ENSP00000349847:H107Y;ENSP00000435514:H107Y	ENSP00000278060:H107Y	H	+	1	0	PAOX	135043630	0.976000	0.34144	0.855000	0.33649	0.477000	0.33069	3.058000	0.49939	2.258000	0.74832	0.563000	0.77884	CAC	PAOX	-	pfam_Amino_oxidase		0.677	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	C	NM_152911		135193640	+1	no_errors	ENST00000278060	ensembl	human	known	70_37	missense	SNP	1.000	T
PAPOLB	56903	genome.wustl.edu	37	7	4901303	4901303	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:4901303G>A	ENST00000404991.1	-	1	322	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGGGCCTGAGGGTTTCTATT	0.542																																																	0													21.0	22.0	22.0					7																	4901303		1928	4149	6077	SO:0001583	missense	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.136C>T	7.37:g.4901303G>A	ENSP00000384700:p.Leu46Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q75LH1|Q8NE14	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.L46F	ENST00000404991.1	37	c.136		7	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471496	0.26423	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.24	0.37175	.	.	.	.	.	T	0.77909	0.4201	M	0.94142	3.5	0.48571	D	0.999671	D	0.56035	0.974	P	0.57679	0.825	T	0.79361	-0.1835	8	0.87932	D	0	.	5.2644	0.15591	0.1021:0.0:0.6939:0.204	.	47	A4D1Z6	.	F	46	.	ENSP00000384700:L46F	L	-	1	0	PAPOLB	4867829	1.000000	0.71417	0.847000	0.33407	0.053000	0.15095	2.812000	0.47994	1.322000	0.45245	0.655000	0.94253	CTC	PAPOLB	-	pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase		0.542	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	HGNC	protein_coding	OTTHUMT00000323797.1	G	NM_020144		4901303	-1	no_errors	ENST00000404991	ensembl	human	known	70_37	missense	SNP	0.962	A
PAPOLB	56903	genome.wustl.edu	37	7	4901303	4901303	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:4901303G>A	ENST00000404991.1	-	1	322	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGGGCCTGAGGGTTTCTATT	0.542																																																	0													21.0	22.0	22.0					7																	4901303		1928	4149	6077	SO:0001583	missense	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.136C>T	7.37:g.4901303G>A	ENSP00000384700:p.Leu46Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q75LH1|Q8NE14	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.L46F	ENST00000404991.1	37	c.136		7	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471496	0.26423	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.24	0.37175	.	.	.	.	.	T	0.77909	0.4201	M	0.94142	3.5	0.48571	D	0.999671	D	0.56035	0.974	P	0.57679	0.825	T	0.79361	-0.1835	8	0.87932	D	0	.	5.2644	0.15591	0.1021:0.0:0.6939:0.204	.	47	A4D1Z6	.	F	46	.	ENSP00000384700:L46F	L	-	1	0	PAPOLB	4867829	1.000000	0.71417	0.847000	0.33407	0.053000	0.15095	2.812000	0.47994	1.322000	0.45245	0.655000	0.94253	CTC	PAPOLB	-	pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase		0.542	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	HGNC	protein_coding	OTTHUMT00000323797.1	G	NM_020144		4901303	-1	no_errors	ENST00000404991	ensembl	human	known	70_37	missense	SNP	0.962	A
PAXIP1	22976	genome.wustl.edu	37	7	154793209	154793210	+	Intron	INS	-	-	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:154793209_154793210insT	ENST00000404141.1	-	1	236				PAXIP1_ENST00000473219.1_5'UTR|PAXIP1-AS1_ENST00000608317.1_lincRNA|PAXIP1_ENST00000397192.1_Intron			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1						adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AGATAGAAGGCttttttttttt	0.46																																																	0																																										SO:0001627	intron_variant	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.81+1348->A	7.37:g.154793220_154793220dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	RNA	INS	-	NULL	ENST00000404141.1	37	NULL	CCDS47753.1	7																																																																																			PAXIP1	-	-		0.460	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	NM_007349		154793210	-1	no_errors	ENST00000473219	ensembl	human	known	70_37	rna	INS	0.000:0.001	T
PDHA2	5161	genome.wustl.edu	37	4	96762017	96762017	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:96762017A>T	ENST00000295266.4	+	1	779	c.716A>T	c.(715-717)gAt>gTt	p.D239V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	239					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCCAGCCCTGATTACTACAAG	0.423																																																	0													111.0	116.0	114.0					4																	96762017		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.716A>T	4.37:g.96762017A>T	ENSP00000295266:p.Asp239Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.D239V	ENST00000295266.4	37	c.716	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608306	0.66558	.	.	ENSG00000163114	ENST00000295266	D	0.95949	-3.86	4.81	4.81	0.61882	Dehydrogenase, E1 component (1);	0.049285	0.85682	D	0.000000	D	0.97210	0.9088	M	0.80982	2.52	0.80722	D	1	D	0.61697	0.99	D	0.66196	0.942	D	0.97654	1.0156	10	0.87932	D	0	-17.4952	12.6466	0.56738	1.0:0.0:0.0:0.0	.	239	P29803	ODPAT_HUMAN	V	239	ENSP00000295266:D239V	ENSP00000295266:D239V	D	+	2	0	PDHA2	96981040	1.000000	0.71417	0.205000	0.23548	0.838000	0.47535	8.374000	0.90133	2.160000	0.67779	0.383000	0.25322	GAT	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	A			96762017	+1	no_errors	ENST00000295266	ensembl	human	known	70_37	missense	SNP	1.000	T
PDHA2	5161	genome.wustl.edu	37	4	96762017	96762017	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:96762017A>T	ENST00000295266.4	+	1	779	c.716A>T	c.(715-717)gAt>gTt	p.D239V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	239					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCCAGCCCTGATTACTACAAG	0.423																																																	0													111.0	116.0	114.0					4																	96762017		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.716A>T	4.37:g.96762017A>T	ENSP00000295266:p.Asp239Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.D239V	ENST00000295266.4	37	c.716	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608306	0.66558	.	.	ENSG00000163114	ENST00000295266	D	0.95949	-3.86	4.81	4.81	0.61882	Dehydrogenase, E1 component (1);	0.049285	0.85682	D	0.000000	D	0.97210	0.9088	M	0.80982	2.52	0.80722	D	1	D	0.61697	0.99	D	0.66196	0.942	D	0.97654	1.0156	10	0.87932	D	0	-17.4952	12.6466	0.56738	1.0:0.0:0.0:0.0	.	239	P29803	ODPAT_HUMAN	V	239	ENSP00000295266:D239V	ENSP00000295266:D239V	D	+	2	0	PDHA2	96981040	1.000000	0.71417	0.205000	0.23548	0.838000	0.47535	8.374000	0.90133	2.160000	0.67779	0.383000	0.25322	GAT	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	A			96762017	+1	no_errors	ENST00000295266	ensembl	human	known	70_37	missense	SNP	1.000	T
PITPNM3	83394	genome.wustl.edu	37	17	6387600	6387600	+	Missense_Mutation	SNP	C	C	T	rs199749069	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:6387600C>T	ENST00000262483.8	-	5	374	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R60Q	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	96					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAAGGAAACCCGGTACAGTTC	0.597													C|||	4	0.000798722	0.0	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.0041																0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	130.0	117.0	121.0		179,287	5.5	1.0	17		121	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	60/939,96/975	6387600	1,13005	2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.287G>A	17.37:g.6387600C>T	ENSP00000262483:p.Arg96Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.R96Q	ENST00000262483.8	37	c.287	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619545	0.66787	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.19532	2.14;2.14	5.54	5.54	0.83059	.	0.394164	0.22889	N	0.054413	T	0.18841	0.0452	L	0.48877	1.53	0.41849	D	0.990164	P;P	0.39352	0.669;0.487	B;B	0.29440	0.102;0.023	T	0.03166	-1.1065	10	0.33940	T	0.23	-3.7611	17.3603	0.87348	0.0:1.0:0.0:0.0	.	60;96	F8WEW5;Q9BZ71	.;PITM3_HUMAN	Q	96;60	ENSP00000262483:R96Q;ENSP00000407882:R60Q	ENSP00000262483:R96Q	R	-	2	0	PITPNM3	6328324	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.963000	0.49184	2.779000	0.95612	0.655000	0.94253	CGG	PITPNM3	-	NULL		0.597	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	C	NM_031220		6387600	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	missense	SNP	1.000	T
PITPNM3	83394	genome.wustl.edu	37	17	6387600	6387600	+	Missense_Mutation	SNP	C	C	T	rs199749069	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:6387600C>T	ENST00000262483.8	-	5	374	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R60Q	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	96					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAAGGAAACCCGGTACAGTTC	0.597													C|||	4	0.000798722	0.0	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.0041																0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	130.0	117.0	121.0		179,287	5.5	1.0	17		121	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	60/939,96/975	6387600	1,13005	2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.287G>A	17.37:g.6387600C>T	ENSP00000262483:p.Arg96Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.R96Q	ENST00000262483.8	37	c.287	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619545	0.66787	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.19532	2.14;2.14	5.54	5.54	0.83059	.	0.394164	0.22889	N	0.054413	T	0.18841	0.0452	L	0.48877	1.53	0.41849	D	0.990164	P;P	0.39352	0.669;0.487	B;B	0.29440	0.102;0.023	T	0.03166	-1.1065	10	0.33940	T	0.23	-3.7611	17.3603	0.87348	0.0:1.0:0.0:0.0	.	60;96	F8WEW5;Q9BZ71	.;PITM3_HUMAN	Q	96;60	ENSP00000262483:R96Q;ENSP00000407882:R60Q	ENSP00000262483:R96Q	R	-	2	0	PITPNM3	6328324	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.963000	0.49184	2.779000	0.95612	0.655000	0.94253	CGG	PITPNM3	-	NULL		0.597	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	C	NM_031220		6387600	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	missense	SNP	1.000	T
PRDM5	11107	genome.wustl.edu	37	4	121774626	121774626	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:121774626G>A	ENST00000264808.3	-	3	487	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	PRDM5_ENST00000394435.2_Missense_Mutation_p.R83C|PRDM5_ENST00000428209.2_Missense_Mutation_p.R83C|PRDM5_ENST00000515109.1_Missense_Mutation_p.R83C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	83	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACGAAGCGAAGCCAGTTG	0.468																																																	0													302.0	300.0	301.0					4																	121774626		2203	4300	6503	SO:0001583	missense	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.247C>T	4.37:g.121774626G>A	ENSP00000264808:p.Arg83Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.R83C	ENST00000264808.3	37	c.247	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.488343	0.96323	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.52	5.52	0.82312	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.67625	2.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.85130	0.993;0.997;0.855;0.993	D	0.87937	0.2714	10	0.72032	D	0.01	-13.6783	18.5703	0.91133	0.0:0.0:1.0:0.0	.	83;83;83;83	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	C	83	ENSP00000264808:R83C;ENSP00000422309:R83C;ENSP00000404832:R83C;ENSP00000377955:R83C	ENSP00000264808:R83C	R	-	1	0	PRDM5	121994076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.928000	0.75846	2.751000	0.94390	0.650000	0.86243	CGC	PRDM5	-	smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom		0.468	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	G			121774626	-1	no_errors	ENST00000264808	ensembl	human	known	70_37	missense	SNP	1.000	A
PRDM5	11107	genome.wustl.edu	37	4	121774626	121774626	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:121774626G>A	ENST00000264808.3	-	3	487	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	PRDM5_ENST00000394435.2_Missense_Mutation_p.R83C|PRDM5_ENST00000428209.2_Missense_Mutation_p.R83C|PRDM5_ENST00000515109.1_Missense_Mutation_p.R83C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	83	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACGAAGCGAAGCCAGTTG	0.468																																																	0													302.0	300.0	301.0					4																	121774626		2203	4300	6503	SO:0001583	missense	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.247C>T	4.37:g.121774626G>A	ENSP00000264808:p.Arg83Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.R83C	ENST00000264808.3	37	c.247	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.488343	0.96323	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.52	5.52	0.82312	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.67625	2.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.85130	0.993;0.997;0.855;0.993	D	0.87937	0.2714	10	0.72032	D	0.01	-13.6783	18.5703	0.91133	0.0:0.0:1.0:0.0	.	83;83;83;83	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	C	83	ENSP00000264808:R83C;ENSP00000422309:R83C;ENSP00000404832:R83C;ENSP00000377955:R83C	ENSP00000264808:R83C	R	-	1	0	PRDM5	121994076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.928000	0.75846	2.751000	0.94390	0.650000	0.86243	CGC	PRDM5	-	smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom		0.468	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	G			121774626	-1	no_errors	ENST00000264808	ensembl	human	known	70_37	missense	SNP	1.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79465412	79465412	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:79465412G>A	ENST00000376718.3	-	3	434	c.311C>T	c.(310-312)tCg>tTg	p.S104L	PRUNE2_ENST00000376713.3_Missense_Mutation_p.S104L|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	104					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGTGTTATCGATAACTTCCC	0.423																																																	0													128.0	122.0	124.0					9																	79465412		2203	4300	6503	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.311C>T	9.37:g.79465412G>A	ENSP00000365908:p.Ser104Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S104L	ENST00000376718.3	37	c.311	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496919	0.26861	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15372	2.43;2.43	5.78	4.88	0.63580	.	0.418302	0.24713	N	0.036216	T	0.15825	0.0381	L	0.39397	1.21	0.80722	D	1	D;B	0.63046	0.992;0.123	P;B	0.44422	0.449;0.005	T	0.00666	-1.1619	10	0.36615	T	0.2	.	10.4638	0.44596	0.1439:0.0:0.8561:0.0	.	104;104	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	L	104;103;104	ENSP00000365908:S104L;ENSP00000365903:S104L	ENSP00000365903:S104L	S	-	2	0	PRUNE2	78655232	1.000000	0.71417	0.860000	0.33809	0.161000	0.22273	4.284000	0.58983	2.730000	0.93505	0.650000	0.86243	TCG	PRUNE2	-	NULL		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79465412	-1	no_errors	ENST00000376718	ensembl	human	novel	70_37	missense	SNP	0.922	A
PRUNE2	158471	genome.wustl.edu	37	9	79465412	79465412	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:79465412G>A	ENST00000376718.3	-	3	434	c.311C>T	c.(310-312)tCg>tTg	p.S104L	PRUNE2_ENST00000376713.3_Missense_Mutation_p.S104L|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	104					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGTGTTATCGATAACTTCCC	0.423																																																	0													128.0	122.0	124.0					9																	79465412		2203	4300	6503	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.311C>T	9.37:g.79465412G>A	ENSP00000365908:p.Ser104Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S104L	ENST00000376718.3	37	c.311	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496919	0.26861	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15372	2.43;2.43	5.78	4.88	0.63580	.	0.418302	0.24713	N	0.036216	T	0.15825	0.0381	L	0.39397	1.21	0.80722	D	1	D;B	0.63046	0.992;0.123	P;B	0.44422	0.449;0.005	T	0.00666	-1.1619	10	0.36615	T	0.2	.	10.4638	0.44596	0.1439:0.0:0.8561:0.0	.	104;104	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	L	104;103;104	ENSP00000365908:S104L;ENSP00000365903:S104L	ENSP00000365903:S104L	S	-	2	0	PRUNE2	78655232	1.000000	0.71417	0.860000	0.33809	0.161000	0.22273	4.284000	0.58983	2.730000	0.93505	0.650000	0.86243	TCG	PRUNE2	-	NULL		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79465412	-1	no_errors	ENST00000376718	ensembl	human	novel	70_37	missense	SNP	0.922	A
PSD4	23550	genome.wustl.edu	37	2	113915040	113915040	+	3'UTR	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:113915040C>T	ENST00000465917.1	+	0	139							Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ccgcccccagccggcgcctgg	0.816																																																	0																																										SO:0001624	3_prime_UTR_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000465917.1:c.*136C>T	2.37:g.113915040C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	RNA	SNP	-	NULL	ENST00000465917.1	37	NULL		2																																																																																			PSD4	-	-		0.816	PSD4-012	KNOWN	basic	processed_transcript	PSD4	HGNC	protein_coding	OTTHUMT00000330800.1	C	NM_012455		113915040	+1	no_errors	ENST00000465917	ensembl	human	known	70_37	rna	SNP	0.278	T
PSEN1	5663	genome.wustl.edu	37	14	73637568	73637568	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr14:73637568T>C	ENST00000324501.5	+	4	423	c.151T>C	c.(151-153)Tct>Cct	p.S51P	PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.S51P|PSEN1_ENST00000261970.3_Missense_Mutation_p.S51P|PSEN1_ENST00000357710.4_Missense_Mutation_p.S47P|PSEN1_ENST00000394157.3_Missense_Mutation_p.S51P|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000394164.1_Missense_Mutation_p.S47P|PSEN1_ENST00000344094.3_Missense_Mutation_p.S51P	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	51					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGAGCCATTATCTAATGGACG	0.478																																																	0													77.0	73.0	75.0					14																	73637568		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.151T>C	14.37:g.73637568T>C	ENSP00000326366:p.Ser51Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.S51P	ENST00000324501.5	37	c.151	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353133	0.24512	.	.	ENSG00000080815	ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99663	-5.49;-3.36;-3.2;-3.5;-5.81;-3.36;-6.33;-6.15;-6.16;-5.89;-6.12;-5.9;-3.87;-6.16;-6.12	5.15	3.94	0.45596	.	0.344451	0.30940	N	0.008563	D	0.97739	0.9258	N	0.08118	0	0.09310	N	1	B;B;D	0.53151	0.0;0.001;0.958	B;B;P	0.51229	0.003;0.001;0.663	D	0.94438	0.7656	10	0.25106	T	0.35	-16.0992	9.7304	0.40357	0.2461:0.0:0.0:0.7539	.	47;51;51	P49768-2;P49768;P49768-4	.;PSN1_HUMAN;.	P	47;47;47;47;51;47;47;51;51;47;51;51;51;51;47;47;47;51	ENSP00000451498:S47P;ENSP00000452128:S47P;ENSP00000450551:S47P;ENSP00000451880:S51P;ENSP00000451674:S47P;ENSP00000452477:S47P;ENSP00000377712:S51P;ENSP00000326366:S51P;ENSP00000350342:S47P;ENSP00000450652:S51P;ENSP00000261970:S51P;ENSP00000339523:S51P;ENSP00000451915:S51P;ENSP00000377719:S47P;ENSP00000451429:S51P	ENSP00000261970:S51P	S	+	1	0	PSEN1	72707321	0.679000	0.27596	0.628000	0.29241	0.350000	0.29205	2.676000	0.46883	2.161000	0.67846	0.460000	0.39030	TCT	PSEN1	-	prints_Pept_A22A_PS1		0.478	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	T			73637568	+1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	0.066	C
PSEN1	5663	genome.wustl.edu	37	14	73637568	73637568	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr14:73637568T>C	ENST00000324501.5	+	4	423	c.151T>C	c.(151-153)Tct>Cct	p.S51P	PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.S51P|PSEN1_ENST00000261970.3_Missense_Mutation_p.S51P|PSEN1_ENST00000357710.4_Missense_Mutation_p.S47P|PSEN1_ENST00000394157.3_Missense_Mutation_p.S51P|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000394164.1_Missense_Mutation_p.S47P|PSEN1_ENST00000344094.3_Missense_Mutation_p.S51P	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	51					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGAGCCATTATCTAATGGACG	0.478																																																	0													77.0	73.0	75.0					14																	73637568		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.151T>C	14.37:g.73637568T>C	ENSP00000326366:p.Ser51Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.S51P	ENST00000324501.5	37	c.151	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353133	0.24512	.	.	ENSG00000080815	ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99663	-5.49;-3.36;-3.2;-3.5;-5.81;-3.36;-6.33;-6.15;-6.16;-5.89;-6.12;-5.9;-3.87;-6.16;-6.12	5.15	3.94	0.45596	.	0.344451	0.30940	N	0.008563	D	0.97739	0.9258	N	0.08118	0	0.09310	N	1	B;B;D	0.53151	0.0;0.001;0.958	B;B;P	0.51229	0.003;0.001;0.663	D	0.94438	0.7656	10	0.25106	T	0.35	-16.0992	9.7304	0.40357	0.2461:0.0:0.0:0.7539	.	47;51;51	P49768-2;P49768;P49768-4	.;PSN1_HUMAN;.	P	47;47;47;47;51;47;47;51;51;47;51;51;51;51;47;47;47;51	ENSP00000451498:S47P;ENSP00000452128:S47P;ENSP00000450551:S47P;ENSP00000451880:S51P;ENSP00000451674:S47P;ENSP00000452477:S47P;ENSP00000377712:S51P;ENSP00000326366:S51P;ENSP00000350342:S47P;ENSP00000450652:S51P;ENSP00000261970:S51P;ENSP00000339523:S51P;ENSP00000451915:S51P;ENSP00000377719:S47P;ENSP00000451429:S51P	ENSP00000261970:S51P	S	+	1	0	PSEN1	72707321	0.679000	0.27596	0.628000	0.29241	0.350000	0.29205	2.676000	0.46883	2.161000	0.67846	0.460000	0.39030	TCT	PSEN1	-	prints_Pept_A22A_PS1		0.478	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	T			73637568	+1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	0.066	C
PTAR1	375743	genome.wustl.edu	37	9	72365756	72365756	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:72365756G>C	ENST00000340434.4	-	2	200	c.197C>G	c.(196-198)cCa>cGa	p.P66R	PTAR1_ENST00000377200.5_Intron	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	66					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGGACATATGGTAAAAGGAA	0.428																																																	0													117.0	111.0	113.0					9																	72365756		1921	4128	6049	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.197C>G	9.37:g.72365756G>C	ENSP00000344299:p.Pro66Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.P66R	ENST00000340434.4	37	c.197	CCDS47978.1	9	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483052	0.63962	.	.	ENSG00000188647	ENST00000340434	T	0.39056	1.1	5.8	5.8	0.92144	Protein prenyltransferase (1);	.	.	.	.	T	0.56804	0.2010	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.41016	-0.9532	9	0.13470	T	0.59	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	66	Q7Z6K3	PTAR1_HUMAN	R	66	ENSP00000344299:P66R	ENSP00000344299:P66R	P	-	2	0	PTAR1	71555576	1.000000	0.71417	0.966000	0.40874	0.999000	0.98932	9.869000	0.99810	2.733000	0.93635	0.650000	0.86243	CCA	PTAR1	-	NULL		0.428	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	G	NM_001099666		72365756	-1	no_errors	ENST00000340434	ensembl	human	known	70_37	missense	SNP	1.000	C
PTAR1	375743	genome.wustl.edu	37	9	72365756	72365756	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:72365756G>C	ENST00000340434.4	-	2	200	c.197C>G	c.(196-198)cCa>cGa	p.P66R	PTAR1_ENST00000377200.5_Intron	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	66					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGGACATATGGTAAAAGGAA	0.428																																																	0													117.0	111.0	113.0					9																	72365756		1921	4128	6049	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.197C>G	9.37:g.72365756G>C	ENSP00000344299:p.Pro66Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.P66R	ENST00000340434.4	37	c.197	CCDS47978.1	9	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483052	0.63962	.	.	ENSG00000188647	ENST00000340434	T	0.39056	1.1	5.8	5.8	0.92144	Protein prenyltransferase (1);	.	.	.	.	T	0.56804	0.2010	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.41016	-0.9532	9	0.13470	T	0.59	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	66	Q7Z6K3	PTAR1_HUMAN	R	66	ENSP00000344299:P66R	ENSP00000344299:P66R	P	-	2	0	PTAR1	71555576	1.000000	0.71417	0.966000	0.40874	0.999000	0.98932	9.869000	0.99810	2.733000	0.93635	0.650000	0.86243	CCA	PTAR1	-	NULL		0.428	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	G	NM_001099666		72365756	-1	no_errors	ENST00000340434	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB3GAP2	25782	genome.wustl.edu	37	1	220440280	220440280	+	Intron	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:220440280G>C	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTCAAAAGGAGGCTTCCCAAC	0.468																																																	0																																										SO:0001627	intron_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+5284C>G	1.37:g.220440280G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-		0.468	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220440280	-1	no_errors	ENST00000462353	ensembl	human	known	70_37	rna	SNP	1.000	C
RAB3GAP2	25782	genome.wustl.edu	37	1	220440280	220440280	+	Intron	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:220440280G>C	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTCAAAAGGAGGCTTCCCAAC	0.468																																																	0																																										SO:0001627	intron_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+5284C>G	1.37:g.220440280G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-		0.468	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220440280	-1	no_errors	ENST00000462353	ensembl	human	known	70_37	rna	SNP	1.000	C
RBMXL3	139804	genome.wustl.edu	37	X	114424064	114424064	+	Silent	SNP	C	C	T	rs371069030		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:114424064C>T	ENST00000424776.3	+	1	102	c.60C>T	c.(58-60)gaC>gaT	p.D20D	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	20	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D20D(1)		endometrium(13)|kidney(2)|skin(1)	16						TCAAAACCGACGAGAAAGCCC	0.532																																																	1	Substitution - coding silent(1)	endometrium(1)						C	,	1,1208		0,1,516,175	63.0	58.0	60.0		60,	-1.4	0.0	X		60	0,2391		0,0,800,791	no	coding-synonymous,intron	LRCH2,RBMXL3	NM_001145346.1,NM_020871.3	,	0,1,1316,966	TT,TC,CC,C		0.0,0.0827,0.0278	,	20/1068,	114424064	1,3599	692	1591	2283	SO:0001819	synonymous_variant	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.60C>T	X.37:g.114424064C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D20	ENST00000424776.3	37	c.60	CCDS55478.1	X																																																																																			RBMXL3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.532	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	C	NM_001145346		114424064	+1	no_errors	ENST00000424776	ensembl	human	known	70_37	silent	SNP	0.890	T
RHPN1	114822	genome.wustl.edu	37	8	144463474	144463474	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:144463474G>A	ENST00000289013.6	+	12	1549	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	508					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGGATGCCACGCCTGTCCCAG	0.627																																																	0													45.0	51.0	49.0					8																	144463474		2110	4223	6333	SO:0001583	missense	114822			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1448G>A	8.37:g.144463474G>A	ENSP00000289013:p.Arg483His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.R483H	ENST00000289013.6	37	c.1448	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405483	0.25378	.	.	ENSG00000158106	ENST00000289013	T	0.17528	2.27	4.83	2.98	0.34508	.	0.531595	0.20787	N	0.085689	T	0.08088	0.0202	N	0.08118	0	0.09310	N	0.999999	P	0.38473	0.633	B	0.37943	0.261	T	0.14254	-1.0479	10	0.66056	D	0.02	-10.7756	6.0299	0.19675	0.1463:0.0:0.6932:0.1605	.	483	Q8TCX5-2	.	H	483	ENSP00000289013:R483H	ENSP00000289013:R483H	R	+	2	0	RHPN1	144534617	0.962000	0.33011	0.400000	0.26346	0.195000	0.23768	1.651000	0.37302	2.228000	0.72767	0.456000	0.33151	CGC	RHPN1	-	pfam_BRO1_dom		0.627	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	G			144463474	+1	no_errors	ENST00000289013	ensembl	human	known	70_37	missense	SNP	0.531	A
RORA	6095	genome.wustl.edu	37	15	61468389	61468389	+	Intron	SNP	A	A	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:61468389A>G	ENST00000335670.6	-	1	267					NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCCACACACCACAGTCAA	0.383																																																	0																																										SO:0001627	intron_variant	6095			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.166+52862T>C	15.37:g.61468389A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P35397|P35399|P45445|Q495X4|Q96H83	RNA	SNP	-	NULL	ENST00000335670.6	37	NULL	CCDS10177.1	15																																																																																			RORA	-	-		0.383	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RORA	HGNC	protein_coding	OTTHUMT00000256142.2	A			61468389	-1	no_errors	ENST00000558904	ensembl	human	putative	70_37	rna	SNP	0.000	G
RPAP2	79871	genome.wustl.edu	37	1	92798963	92798963	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:92798963C>G	ENST00000610020.1	+	9	1580	c.1471C>G	c.(1471-1473)Cca>Gca	p.P491A		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	491					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTCCACCTTTCCACTGATAGA	0.333																																																	0													136.0	131.0	132.0					1																	92798963		2203	4299	6502	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1471C>G	1.37:g.92798963C>G	ENSP00000476948:p.Pro491Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.P491A	ENST00000610020.1	37	c.1471	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192635	0.78902	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	M	0.82323	2.585	0.37101	D	0.899901	D	0.89917	1.0	D	0.87578	0.998	D	0.84108	0.0399	8	0.87932	D	0	-10.5531	19.3694	0.94479	0.0:1.0:0.0:0.0	.	491	Q8IXW5	RPAP2_HUMAN	A	491	.	ENSP00000359368:P491A	P	+	1	0	RPAP2	92571551	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.013000	0.70776	2.596000	0.87737	0.484000	0.47621	CCA	RPAP2	-	NULL		0.333	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	C	NM_024813		92798963	+1	no_errors	ENST00000370343	ensembl	human	known	70_37	missense	SNP	1.000	G
RPAP2	79871	genome.wustl.edu	37	1	92798963	92798963	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:92798963C>G	ENST00000610020.1	+	9	1580	c.1471C>G	c.(1471-1473)Cca>Gca	p.P491A		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	491					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTCCACCTTTCCACTGATAGA	0.333																																																	0													136.0	131.0	132.0					1																	92798963		2203	4299	6502	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1471C>G	1.37:g.92798963C>G	ENSP00000476948:p.Pro491Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.P491A	ENST00000610020.1	37	c.1471	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192635	0.78902	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	M	0.82323	2.585	0.37101	D	0.899901	D	0.89917	1.0	D	0.87578	0.998	D	0.84108	0.0399	8	0.87932	D	0	-10.5531	19.3694	0.94479	0.0:1.0:0.0:0.0	.	491	Q8IXW5	RPAP2_HUMAN	A	491	.	ENSP00000359368:P491A	P	+	1	0	RPAP2	92571551	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.013000	0.70776	2.596000	0.87737	0.484000	0.47621	CCA	RPAP2	-	NULL		0.333	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	C	NM_024813		92798963	+1	no_errors	ENST00000370343	ensembl	human	known	70_37	missense	SNP	1.000	G
RPL39	6170	genome.wustl.edu	37	X	118920604	118920604	+	3'UTR	SNP	C	C	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:118920604C>A	ENST00000361575.3	-	0	265				RPL39_ENST00000468844.1_5'UTR|SNORA69_ENST00000383895.1_RNA	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39						antibacterial humoral response (GO:0019731)|cellular protein metabolic process (GO:0044267)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|innate immune response in mucosa (GO:0002227)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular space (GO:0005615)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						TGATCGTGACCTTCAGACAGC	0.423																																																	0													71.0	65.0	67.0					X																	118920604		2202	4280	6482	SO:0001624	3_prime_UTR_variant	6170				CCDS14586.1	Xq24	2013-03-11			ENSG00000198918	ENSG00000198918		"""L ribosomal proteins"""	10350	protein-coding gene	gene with protein product		300899	"""ribosomal protein L39 pseudogene 42"""	RPL39P42		8764829	Standard	NM_001000		Approved	L39	uc004erx.2	P62891	OTTHUMG00000022278	ENST00000361575.3:c.*43G>T	X.37:g.118920604C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P02404|P39025|Q9BYF2	RNA	SNP	-	NULL	ENST00000361575.3	37	NULL	CCDS14586.1	X																																																																																			RPL39	-	-		0.423	RPL39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL39	HGNC	protein_coding	OTTHUMT00000058047.1	C	NM_001000		118920604	-1	no_errors	ENST00000468844	ensembl	human	known	70_37	rna	SNP	0.000	A
RPL39	6170	genome.wustl.edu	37	X	118920604	118920604	+	3'UTR	SNP	C	C	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:118920604C>A	ENST00000361575.3	-	0	265				RPL39_ENST00000468844.1_5'UTR|SNORA69_ENST00000383895.1_RNA	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39						antibacterial humoral response (GO:0019731)|cellular protein metabolic process (GO:0044267)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|innate immune response in mucosa (GO:0002227)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular space (GO:0005615)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						TGATCGTGACCTTCAGACAGC	0.423																																																	0													71.0	65.0	67.0					X																	118920604		2202	4280	6482	SO:0001624	3_prime_UTR_variant	6170				CCDS14586.1	Xq24	2013-03-11			ENSG00000198918	ENSG00000198918		"""L ribosomal proteins"""	10350	protein-coding gene	gene with protein product		300899	"""ribosomal protein L39 pseudogene 42"""	RPL39P42		8764829	Standard	NM_001000		Approved	L39	uc004erx.2	P62891	OTTHUMG00000022278	ENST00000361575.3:c.*43G>T	X.37:g.118920604C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P02404|P39025|Q9BYF2	RNA	SNP	-	NULL	ENST00000361575.3	37	NULL	CCDS14586.1	X																																																																																			RPL39	-	-		0.423	RPL39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL39	HGNC	protein_coding	OTTHUMT00000058047.1	C	NM_001000		118920604	-1	no_errors	ENST00000468844	ensembl	human	known	70_37	rna	SNP	0.000	A
SAMD4B	55095	genome.wustl.edu	37	19	39850655	39850655	+	Intron	SNP	C	C	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:39850655C>G	ENST00000314471.6	+	5	1231				SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000598913.1_Intron|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			gaaaccccgtctctactaaaa	0.572																																																	0																																										SO:0001627	intron_variant	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.196+2926C>G	19.37:g.39850655C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5Z0M6|Q6P194	RNA	SNP	-	NULL	ENST00000314471.6	37	NULL	CCDS33020.1	19																																																																																			SAMD4B	-	-		0.572	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	C	NM_018028		39850655	+1	no_errors	ENST00000594204	ensembl	human	known	70_37	rna	SNP	0.061	G
SEC14L1	6397	genome.wustl.edu	37	17	75186917	75186917	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:75186917G>A	ENST00000413679.2	+	4	399	c.96G>A	c.(94-96)ttG>ttA	p.L32L	SEC14L1_ENST00000431431.2_5'UTR|SEC14L1_ENST00000436233.4_Silent_p.L32L|SEC14L1_ENST00000430767.4_Silent_p.L32L|SEC14L1_ENST00000443798.4_Silent_p.L32L|SEC14L1_ENST00000591437.1_5'UTR|SEC14L1_ENST00000392476.2_Silent_p.L32L|SEC14L1_ENST00000585618.1_Silent_p.L32L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	32	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CATGTCCTTTGATTCCGATGT	0.458																																																	0													105.0	95.0	98.0					17																	75186917		2203	4300	6503	SO:0001819	synonymous_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.96G>A	17.37:g.75186917G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.L32	ENST00000413679.2	37	c.96	CCDS11752.1	17																																																																																			SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.458	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	G	NM_003003		75186917	+1	no_errors	ENST00000392476	ensembl	human	known	70_37	silent	SNP	1.000	A
SEC14L1	6397	genome.wustl.edu	37	17	75186917	75186917	+	Silent	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:75186917G>A	ENST00000413679.2	+	4	399	c.96G>A	c.(94-96)ttG>ttA	p.L32L	SEC14L1_ENST00000431431.2_5'UTR|SEC14L1_ENST00000436233.4_Silent_p.L32L|SEC14L1_ENST00000430767.4_Silent_p.L32L|SEC14L1_ENST00000443798.4_Silent_p.L32L|SEC14L1_ENST00000591437.1_5'UTR|SEC14L1_ENST00000392476.2_Silent_p.L32L|SEC14L1_ENST00000585618.1_Silent_p.L32L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	32	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CATGTCCTTTGATTCCGATGT	0.458																																																	0													105.0	95.0	98.0					17																	75186917		2203	4300	6503	SO:0001819	synonymous_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.96G>A	17.37:g.75186917G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.L32	ENST00000413679.2	37	c.96	CCDS11752.1	17																																																																																			SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.458	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	G	NM_003003		75186917	+1	no_errors	ENST00000392476	ensembl	human	known	70_37	silent	SNP	1.000	A
SIPA1L2	57568	genome.wustl.edu	37	1	232626797	232626797	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:232626797C>T	ENST00000366630.1	-	4	1987	c.1629G>A	c.(1627-1629)ctG>ctA	p.L543L	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Silent_p.L543L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	543					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGCTCCTCTCAGTGTTGTAA	0.428																																																	0													56.0	56.0	56.0					1																	232626797		1952	4141	6093	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1629G>A	1.37:g.232626797C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L543	ENST00000366630.1	37	c.1629	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232626797	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	silent	SNP	0.990	T
SIPA1L2	57568	genome.wustl.edu	37	1	232626797	232626797	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:232626797C>T	ENST00000366630.1	-	4	1987	c.1629G>A	c.(1627-1629)ctG>ctA	p.L543L	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Silent_p.L543L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	543					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGCTCCTCTCAGTGTTGTAA	0.428																																																	0													56.0	56.0	56.0					1																	232626797		1952	4141	6093	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1629G>A	1.37:g.232626797C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L543	ENST00000366630.1	37	c.1629	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232626797	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	silent	SNP	0.990	T
SLC1A6	6511	genome.wustl.edu	37	19	15083604	15083604	+	Missense_Mutation	SNP	C	C	T	rs540964903		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:15083604C>T	ENST00000221742.3	-	1	126	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SLC1A6_ENST00000598504.1_Missense_Mutation_p.R40H|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R40H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R40H|SLC1A6_ENST00000430939.2_Silent_p.A44A	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	40					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R40H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGTCTGCAGGCGCAGGCGCGT	0.682																																																	1	Substitution - Missense(1)	lung(1)											22.0	24.0	23.0					19																	15083604		2202	4300	6502	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.119G>A	19.37:g.15083604C>T	ENSP00000221742:p.Arg40His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R40H	ENST00000221742.3	37	c.119	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592229	0.28357	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.57595	0.39;1.13	4.46	2.13	0.27403	.	0.674152	0.13213	N	0.405013	T	0.25044	0.0608	N	0.08118	0	0.30108	N	0.806784	B;B;B	0.19331	0.035;0.014;0.016	B;B;B	0.12156	0.007;0.006;0.003	T	0.23154	-1.0196	10	0.12103	T	0.63	-12.3841	4.8781	0.13665	0.0:0.6828:0.0:0.3172	.	40;41;40	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	H	40;40;41	ENSP00000221742:R40H;ENSP00000446175:R40H	ENSP00000221742:R40H	R	-	2	0	SLC1A6	14944604	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	2.250000	0.43178	1.007000	0.39238	0.313000	0.20887	CGC	SLC1A6	-	NULL		0.682	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	C	NM_005071		15083604	-1	no_errors	ENST00000221742	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC1A6	6511	genome.wustl.edu	37	19	15083604	15083604	+	Missense_Mutation	SNP	C	C	T	rs540964903		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:15083604C>T	ENST00000221742.3	-	1	126	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SLC1A6_ENST00000598504.1_Missense_Mutation_p.R40H|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R40H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R40H|SLC1A6_ENST00000430939.2_Silent_p.A44A	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	40					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R40H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGTCTGCAGGCGCAGGCGCGT	0.682																																																	1	Substitution - Missense(1)	lung(1)											22.0	24.0	23.0					19																	15083604		2202	4300	6502	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.119G>A	19.37:g.15083604C>T	ENSP00000221742:p.Arg40His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R40H	ENST00000221742.3	37	c.119	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592229	0.28357	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.57595	0.39;1.13	4.46	2.13	0.27403	.	0.674152	0.13213	N	0.405013	T	0.25044	0.0608	N	0.08118	0	0.30108	N	0.806784	B;B;B	0.19331	0.035;0.014;0.016	B;B;B	0.12156	0.007;0.006;0.003	T	0.23154	-1.0196	10	0.12103	T	0.63	-12.3841	4.8781	0.13665	0.0:0.6828:0.0:0.3172	.	40;41;40	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	H	40;40;41	ENSP00000221742:R40H;ENSP00000446175:R40H	ENSP00000221742:R40H	R	-	2	0	SLC1A6	14944604	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	2.250000	0.43178	1.007000	0.39238	0.313000	0.20887	CGC	SLC1A6	-	NULL		0.682	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	C	NM_005071		15083604	-1	no_errors	ENST00000221742	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC22A8	9376	genome.wustl.edu	37	11	62762218	62762218	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:62762218C>T	ENST00000336232.2	-	8	1147	c.1012G>A	c.(1012-1014)Ggt>Agt	p.G338S	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G247S|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G338S|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G215S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G338S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	338					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TAGGCAAAACCGGTAGCAAAC	0.517																																																	0													107.0	85.0	92.0					11																	62762218		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1012G>A	11.37:g.62762218C>T	ENSP00000337335:p.Gly338Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G338S	ENST00000336232.2	37	c.1012	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376687	0.11466	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.23	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.047513	0.85682	D	0.000000	T	0.64832	0.2634	N	0.02708	-0.52	0.25502	N	0.987544	P;P	0.36125	0.482;0.538	B;B	0.37091	0.155;0.241	T	0.63629	-0.6594	10	0.02654	T	1	.	7.0407	0.25019	0.0:0.8139:0.0:0.1861	.	338;338	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	S	338;324;247;215;338;338	ENSP00000337335:G338S;ENSP00000441658:G247S;ENSP00000443368:G215S;ENSP00000311463:G338S;ENSP00000398548:G338S	ENSP00000311463:G338S	G	-	1	0	SLC22A8	62518794	0.961000	0.32948	0.665000	0.29768	0.989000	0.77384	2.953000	0.49105	2.443000	0.82685	0.561000	0.74099	GGT	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.517	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	C	NM_004254		62762218	-1	no_errors	ENST00000336232	ensembl	human	known	70_37	missense	SNP	0.438	T
SLC22A8	9376	genome.wustl.edu	37	11	62762218	62762218	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:62762218C>T	ENST00000336232.2	-	8	1147	c.1012G>A	c.(1012-1014)Ggt>Agt	p.G338S	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G247S|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G338S|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G215S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G338S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	338					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TAGGCAAAACCGGTAGCAAAC	0.517																																																	0													107.0	85.0	92.0					11																	62762218		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1012G>A	11.37:g.62762218C>T	ENSP00000337335:p.Gly338Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G338S	ENST00000336232.2	37	c.1012	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376687	0.11466	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.23	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.047513	0.85682	D	0.000000	T	0.64832	0.2634	N	0.02708	-0.52	0.25502	N	0.987544	P;P	0.36125	0.482;0.538	B;B	0.37091	0.155;0.241	T	0.63629	-0.6594	10	0.02654	T	1	.	7.0407	0.25019	0.0:0.8139:0.0:0.1861	.	338;338	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	S	338;324;247;215;338;338	ENSP00000337335:G338S;ENSP00000441658:G247S;ENSP00000443368:G215S;ENSP00000311463:G338S;ENSP00000398548:G338S	ENSP00000311463:G338S	G	-	1	0	SLC22A8	62518794	0.961000	0.32948	0.665000	0.29768	0.989000	0.77384	2.953000	0.49105	2.443000	0.82685	0.561000	0.74099	GGT	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.517	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	C	NM_004254		62762218	-1	no_errors	ENST00000336232	ensembl	human	known	70_37	missense	SNP	0.438	T
SMAD4	4089	genome.wustl.edu	37	18	48575080	48575080	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr18:48575080C>T	ENST00000342988.3	+	3	812	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	SMAD4_ENST00000588745.1_Missense_Mutation_p.H92Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.H92Y|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.H92Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	92	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGGATTTCCTCATGTGATCTA	0.363																																																	40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)											150.0	137.0	141.0					18																	48575080		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.274C>T	18.37:g.48575080C>T	ENSP00000341551:p.His92Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.H92Y	ENST00000342988.3	37	c.274	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937191	0.92458	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.80304	-1.36;-1.36;-1.36	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94608	0.7802	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	92	Q13485	SMAD4_HUMAN	Y	92	ENSP00000409551:H92Y;ENSP00000341551:H92Y;ENSP00000381452:H92Y	ENSP00000341551:H92Y	H	+	1	0	SMAD4	46829078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.463000	0.83235	0.585000	0.79938	CAT	SMAD4	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.363	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48575080	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	T
SMAD4	4089	genome.wustl.edu	37	18	48575080	48575080	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr18:48575080C>T	ENST00000342988.3	+	3	812	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	SMAD4_ENST00000588745.1_Missense_Mutation_p.H92Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.H92Y|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.H92Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	92	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGGATTTCCTCATGTGATCTA	0.363																																																	40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)											150.0	137.0	141.0					18																	48575080		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.274C>T	18.37:g.48575080C>T	ENSP00000341551:p.His92Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.H92Y	ENST00000342988.3	37	c.274	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937191	0.92458	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.80304	-1.36;-1.36;-1.36	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94608	0.7802	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	92	Q13485	SMAD4_HUMAN	Y	92	ENSP00000409551:H92Y;ENSP00000341551:H92Y;ENSP00000381452:H92Y	ENSP00000341551:H92Y	H	+	1	0	SMAD4	46829078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.463000	0.83235	0.585000	0.79938	CAT	SMAD4	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.363	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48575080	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	T
SNX14	57231	genome.wustl.edu	37	6	86270988	86270988	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:86270988C>T	ENST00000314673.3	-	7	726				RP11-321N4.5_ENST00000503906.1_Intron|SNX14_ENST00000346348.3_Intron|SNX14_ENST00000369627.2_Intron|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14						protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		atcgcttgagcctggaaggca	0.468																																																	0																																										SO:0001627	intron_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.550-3210G>A	6.37:g.86270988C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	RNA	SNP	-	NULL	ENST00000314673.3	37	NULL	CCDS5004.1	6																																																																																			SNX14	-	-		0.468	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	C	NM_153816		86270988	-1	no_errors	ENST00000508980	ensembl	human	known	70_37	rna	SNP	0.000	T
SPAG1	6674	genome.wustl.edu	37	8	101174635	101174635	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:101174635C>A	ENST00000388798.2	+	2	318	c.127C>A	c.(127-129)Ctt>Att	p.L43I	SPAG1_ENST00000520508.1_Missense_Mutation_p.L43I|SPAG1_ENST00000520643.1_Missense_Mutation_p.L43I|SPAG1_ENST00000251809.3_Missense_Mutation_p.L43I	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	43					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAAAAATTCTTTGCGTGCT	0.299																																																	0													27.0	27.0	27.0					8																	101174635		2202	4292	6494	SO:0001583	missense	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.127C>A	8.37:g.101174635C>A	ENSP00000373450:p.Leu43Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L43I	ENST00000388798.2	37	c.127	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137101	0.37728	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.66995	2.7;-0.24;2.7;-0.24	5.82	2.85	0.33270	.	1.623080	0.03152	N	0.168087	T	0.63165	0.2488	L	0.56769	1.78	0.34127	D	0.664807	P;P	0.45957	0.686;0.869	B;B	0.41510	0.173;0.359	T	0.58907	-0.7553	10	0.30854	T	0.27	-1.8262	4.6365	0.12527	0.1504:0.593:0.0:0.2565	.	43;43	Q07617;G3XAM3	SPAG1_HUMAN;.	I	43	ENSP00000427716:L43I;ENSP00000251809:L43I;ENSP00000428070:L43I;ENSP00000373450:L43I	ENSP00000251809:L43I	L	+	1	0	SPAG1	101243811	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	0.946000	0.29069	0.737000	0.32582	0.563000	0.77884	CTT	SPAG1	-	NULL		0.299	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	C	NM_172218		101174635	+1	no_errors	ENST00000251809	ensembl	human	known	70_37	missense	SNP	0.977	A
SPAG1	6674	genome.wustl.edu	37	8	101174635	101174635	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:101174635C>A	ENST00000388798.2	+	2	318	c.127C>A	c.(127-129)Ctt>Att	p.L43I	SPAG1_ENST00000520508.1_Missense_Mutation_p.L43I|SPAG1_ENST00000520643.1_Missense_Mutation_p.L43I|SPAG1_ENST00000251809.3_Missense_Mutation_p.L43I	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	43					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAAAAATTCTTTGCGTGCT	0.299																																																	0													27.0	27.0	27.0					8																	101174635		2202	4292	6494	SO:0001583	missense	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.127C>A	8.37:g.101174635C>A	ENSP00000373450:p.Leu43Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L43I	ENST00000388798.2	37	c.127	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137101	0.37728	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.66995	2.7;-0.24;2.7;-0.24	5.82	2.85	0.33270	.	1.623080	0.03152	N	0.168087	T	0.63165	0.2488	L	0.56769	1.78	0.34127	D	0.664807	P;P	0.45957	0.686;0.869	B;B	0.41510	0.173;0.359	T	0.58907	-0.7553	10	0.30854	T	0.27	-1.8262	4.6365	0.12527	0.1504:0.593:0.0:0.2565	.	43;43	Q07617;G3XAM3	SPAG1_HUMAN;.	I	43	ENSP00000427716:L43I;ENSP00000251809:L43I;ENSP00000428070:L43I;ENSP00000373450:L43I	ENSP00000251809:L43I	L	+	1	0	SPAG1	101243811	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	0.946000	0.29069	0.737000	0.32582	0.563000	0.77884	CTT	SPAG1	-	NULL		0.299	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	C	NM_172218		101174635	+1	no_errors	ENST00000251809	ensembl	human	known	70_37	missense	SNP	0.977	A
TAMM41	132001	genome.wustl.edu	37	3	11849353	11849353	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:11849353C>T	ENST00000444133.2	-	7	1033	c.891G>A	c.(889-891)gtG>gtA	p.V297V	TAMM41_ENST00000273037.5_Intron|TAMM41_ENST00000455809.1_Silent_p.V297V			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	297					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TAGACGGTCTCACGATTGCTG	0.403																																																	0																																										SO:0001819	synonymous_variant	132001				CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.891G>A	3.37:g.11849353C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIY7|C9J2U4	Silent	SNP	pfam_Mmp37	p.V297	ENST00000444133.2	37	c.891		3																																																																																			TAMM41	-	pfam_Mmp37		0.403	TAMM41-008	PUTATIVE	basic	protein_coding	TAMM41	HGNC	protein_coding	OTTHUMT00000339258.2	C	NM_138807		11849353	-1	no_errors	ENST00000444133	ensembl	human	putative	70_37	silent	SNP	1.000	T
TAS2R19	259294	genome.wustl.edu	37	12	11174585	11174585	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:11174585G>C	ENST00000390673.2	-	1	634	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	196					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTAACAGCAGAAAACATATT	0.403																																																	0													149.0	144.0	146.0					12																	11174585		2203	4300	6503	SO:0001583	missense	259294			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.586C>G	12.37:g.11174585G>C	ENSP00000375091:p.Leu196Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIJ4|Q645X8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L196V	ENST00000390673.2	37	c.586	CCDS8640.1	12	.	.	.	.	.	.	.	.	.	.	a	11.35	1.612198	0.28712	.	.	ENSG00000212124	ENST00000390673	T	0.36699	1.24	2.69	0.544	0.17185	.	0.747586	0.11234	U	0.585364	T	0.43942	0.1270	M	0.72353	2.195	0.09310	N	1	P	0.49185	0.92	P	0.54924	0.764	T	0.36261	-0.9755	10	0.66056	D	0.02	.	1.085	0.01650	0.1511:0.3103:0.3286:0.21	.	196	P59542	T2R19_HUMAN	V	196	ENSP00000375091:L196V	ENSP00000375091:L196V	L	-	1	2	TAS2R19	11065852	0.000000	0.05858	0.010000	0.14722	0.027000	0.11550	-0.187000	0.09656	0.353000	0.24079	0.405000	0.27470	CTG	TAS2R19	-	pfam_TAS2_rcpt		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R19	HGNC	protein_coding	OTTHUMT00000370080.1	G	NM_176888		11174585	-1	no_errors	ENST00000390673	ensembl	human	known	70_37	missense	SNP	0.005	C
TBC1D5	9779	genome.wustl.edu	37	3	17617959	17617959	+	Intron	SNP	A	A	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:17617959A>T	ENST00000253692.7	-	2	1630				TBC1D5_ENST00000429383.4_Intron|TBC1D5_ENST00000446818.2_Intron|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5							retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						aacagaaaaaaaaaatcctct	0.318																																																	0																																										SO:0001627	intron_variant	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.34+47381T>A	3.37:g.17617959A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP25|C9JP52	RNA	SNP	-	NULL	ENST00000253692.7	37	NULL	CCDS33714.1	3																																																																																			TBC1D5	-	-		0.318	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	A	NM_014744		17617959	-1	no_errors	ENST00000480435	ensembl	human	known	70_37	rna	SNP	0.000	T
TCAM1P	146771	genome.wustl.edu	37	17	61937648	61937648	+	RNA	SNP	C	C	T	rs572567077		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:61937648C>T	ENST00000478379.1	+	0	1144					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		GAGTCTTCATCTTTCTCTGGT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		21929	0.0		0.0	False		,,,				2504	0.001																0																																												146771			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61937648C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-		0.488	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	C			61937648	+1	no_errors	ENST00000478379	ensembl	human	known	70_37	rna	SNP	0.270	T
THY1	7070	genome.wustl.edu	37	11	119290224	119290224	+	Missense_Mutation	SNP	A	A	C	rs147718110		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:119290224A>C	ENST00000284240.5	-	4	1419	c.380T>G	c.(379-381)cTg>cGg	p.L127R	USP2-AS1_ENST00000530002.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.L110R|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.L127R	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	127					angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		ACACTTGACCAGTTTGTCTGC	0.602																																																	0													51.0	50.0	50.0					11																	119290224		2199	4295	6494	SO:0001583	missense	7070			M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.380T>G	11.37:g.119290224A>C	ENSP00000284240:p.Leu127Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16008|Q9NSP1	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L127R	ENST00000284240.5	37	c.380	CCDS8424.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.20|18.20	3.572113|3.572113	0.65765|0.65765	.|.	.|.	ENSG00000154096|ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524659|ENST00000527590	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72317|0.72317	0.3445|0.3445	M|M	0.74881|0.74881	2.28|2.28	0.46981|0.46981	D|D	0.999279|0.999279	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.73515|0.73515	-0.3958|-0.3958	10|5	0.87932|.	D|.	0|.	-12.3425|-12.3425	12.1582|12.1582	0.54089|0.54089	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	127|.	P04216|.	THY1_HUMAN|.	R|G	127|135	ENSP00000284240:L127R;ENSP00000431301:L127R;ENSP00000435753:L127R|.	ENSP00000284240:L127R|.	L|W	-|-	2|1	0|0	THY1|THY1	118795434|118795434	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.862000|0.862000	0.49288|0.49288	5.453000|5.453000	0.66645|0.66645	1.999000|1.999000	0.58509|0.58509	0.402000|0.402000	0.26972|0.26972	CTG|TGG	THY1	-	NULL		0.602	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THY1	HGNC	protein_coding	OTTHUMT00000388370.2	A	NM_006288		119290224	-1	no_errors	ENST00000284240	ensembl	human	known	70_37	missense	SNP	1.000	C
THY1	7070	genome.wustl.edu	37	11	119290224	119290224	+	Missense_Mutation	SNP	A	A	C	rs147718110		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:119290224A>C	ENST00000284240.5	-	4	1419	c.380T>G	c.(379-381)cTg>cGg	p.L127R	USP2-AS1_ENST00000530002.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.L110R|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.L127R	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	127					angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		ACACTTGACCAGTTTGTCTGC	0.602																																																	0													51.0	50.0	50.0					11																	119290224		2199	4295	6494	SO:0001583	missense	7070			M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.380T>G	11.37:g.119290224A>C	ENSP00000284240:p.Leu127Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16008|Q9NSP1	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L127R	ENST00000284240.5	37	c.380	CCDS8424.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.20|18.20	3.572113|3.572113	0.65765|0.65765	.|.	.|.	ENSG00000154096|ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524659|ENST00000527590	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72317|0.72317	0.3445|0.3445	M|M	0.74881|0.74881	2.28|2.28	0.46981|0.46981	D|D	0.999279|0.999279	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.73515|0.73515	-0.3958|-0.3958	10|5	0.87932|.	D|.	0|.	-12.3425|-12.3425	12.1582|12.1582	0.54089|0.54089	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	127|.	P04216|.	THY1_HUMAN|.	R|G	127|135	ENSP00000284240:L127R;ENSP00000431301:L127R;ENSP00000435753:L127R|.	ENSP00000284240:L127R|.	L|W	-|-	2|1	0|0	THY1|THY1	118795434|118795434	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.862000|0.862000	0.49288|0.49288	5.453000|5.453000	0.66645|0.66645	1.999000|1.999000	0.58509|0.58509	0.402000|0.402000	0.26972|0.26972	CTG|TGG	THY1	-	NULL		0.602	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THY1	HGNC	protein_coding	OTTHUMT00000388370.2	A	NM_006288		119290224	-1	no_errors	ENST00000284240	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM47	83604	genome.wustl.edu	37	X	34657409	34657409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:34657409G>A	ENST00000275954.3	-	2	580	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	108						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAACGCCTTCGAGATCCCACG	0.448																																																	0													72.0	60.0	64.0					X																	34657409		2202	4300	6502	SO:0001587	stop_gained	83604			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.322C>T	X.37:g.34657409G>A	ENSP00000275954:p.Arg108*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR44	Nonsense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.R108*	ENST00000275954.3	37	c.322	CCDS14235.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.620471	0.97709	.	.	ENSG00000147027	ENST00000275954	.	.	.	5.71	2.98	0.34508	.	0.111342	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.3699	6.6756	0.23092	0.156:0.0:0.6983:0.1457	.	.	.	.	X	108	.	ENSP00000275954:R108X	R	-	1	2	TMEM47	34567330	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.059000	0.57470	0.561000	0.29186	0.538000	0.68166	CGA	TMEM47	-	pfam_Lipome_HGMIC_fus_partner-like		0.448	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM47	HGNC	protein_coding	OTTHUMT00000056209.1	G	NM_031442		34657409	-1	no_errors	ENST00000275954	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TMEM47	83604	genome.wustl.edu	37	X	34657409	34657409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:34657409G>A	ENST00000275954.3	-	2	580	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	108						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAACGCCTTCGAGATCCCACG	0.448																																																	0													72.0	60.0	64.0					X																	34657409		2202	4300	6502	SO:0001587	stop_gained	83604			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.322C>T	X.37:g.34657409G>A	ENSP00000275954:p.Arg108*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR44	Nonsense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.R108*	ENST00000275954.3	37	c.322	CCDS14235.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.620471	0.97709	.	.	ENSG00000147027	ENST00000275954	.	.	.	5.71	2.98	0.34508	.	0.111342	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.3699	6.6756	0.23092	0.156:0.0:0.6983:0.1457	.	.	.	.	X	108	.	ENSP00000275954:R108X	R	-	1	2	TMEM47	34567330	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.059000	0.57470	0.561000	0.29186	0.538000	0.68166	CGA	TMEM47	-	pfam_Lipome_HGMIC_fus_partner-like		0.448	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM47	HGNC	protein_coding	OTTHUMT00000056209.1	G	NM_031442		34657409	-1	no_errors	ENST00000275954	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRIM33	51592	genome.wustl.edu	37	1	114947873	114947873	+	Intron	SNP	T	T	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:114947873T>G	ENST00000358465.2	-	15	2852				TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Intron|TRIM33_ENST00000450349.2_Intron	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATATTTTATTGTTAGTTTCT	0.333			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0																																										SO:0001627	intron_variant	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2768+158A>C	1.37:g.114947873T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	RNA	SNP	-	NULL	ENST00000358465.2	37	NULL	CCDS872.1	1																																																																																			TRIM33	-	-		0.333	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	T	NM_015906		114947873	-1	no_errors	ENST00000476908	ensembl	human	known	70_37	rna	SNP	0.000	G
TRPM2	7226	genome.wustl.edu	37	21	45862910	45862910	+	3'UTR	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr21:45862910C>T	ENST00000397928.1	+	0	6167				TRPM2_ENST00000300481.9_3'UTR|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTGGACAGGCCTCTGTCTTC	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.*1210C>T	21.37:g.45862910C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	RNA	SNP	-	NULL	ENST00000397928.1	37	NULL	CCDS13710.1	21																																																																																			TRPM2	-	-		0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	C	NM_003307		45862910	+1	no_errors	ENST00000498430	ensembl	human	putative	70_37	rna	SNP	0.002	T
UNCX	340260	genome.wustl.edu	37	7	1275967	1275967	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:1275967C>T	ENST00000316333.8	+	3	1061	c.950C>T	c.(949-951)gCg>gTg	p.A317V		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	317	Ala/Pro-rich.				cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCGCTGTGGCGGCGGTGGAG	0.756																																																	0													1.0	1.0	1.0					7																	1275967		257	616	873	SO:0001583	missense	340260				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.950C>T	7.37:g.1275967C>T	ENSP00000314480:p.Ala317Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D221	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A317V	ENST00000316333.8	37	c.950	CCDS34583.1	7	.	.	.	.	.	.	.	.	.	.	C	0.639	-0.813928	0.02798	.	.	ENSG00000164853	ENST00000316333	D	0.90444	-2.67	2.49	0.582	0.17412	.	.	.	.	.	T	0.77075	0.4077	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63800	-0.6555	9	0.36615	T	0.2	.	4.8165	0.13369	0.0:0.4261:0.4374:0.1365	.	317	A6NJT0	UNC4_HUMAN	V	317	ENSP00000314480:A317V	ENSP00000314480:A317V	A	+	2	0	UNCX	1242493	0.016000	0.18221	0.004000	0.12327	0.003000	0.03518	0.491000	0.22419	0.147000	0.19030	-0.748000	0.03510	GCG	UNCX	-	NULL		0.756	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	C	NM_001080461		1275967	+1	no_errors	ENST00000316333	ensembl	human	known	70_37	missense	SNP	0.009	T
WIZ	58525	genome.wustl.edu	37	19	15550606	15550606	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:15550606C>T	ENST00000389282.4	-	3	1268	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	WIZ_ENST00000263381.7_Intron			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	352					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCACTGCAGCCGTGCCTCCCG	0.597																																																	0																																										SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.1055G>A	19.37:g.15550606C>T	ENSP00000373933:p.Arg352Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R352Q	ENST00000389282.4	37	c.1055		19	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247758	0.39697	.	.	ENSG00000011451	ENST00000389282	T	0.15718	2.4	5.51	4.48	0.54585	.	0.320594	0.26048	N	0.026660	T	0.30386	0.0763	.	.	.	0.33836	D	0.630828	.	.	.	.	.	.	T	0.46748	-0.9169	7	0.54805	T	0.06	-25.9278	13.1616	0.59547	0.0:0.9214:0.0:0.0786	.	.	.	.	Q	352	ENSP00000373933:R352Q	ENSP00000373933:R352Q	R	-	2	0	WIZ	15411606	1.000000	0.71417	0.117000	0.21633	0.001000	0.01503	4.553000	0.60753	1.337000	0.45525	-0.362000	0.07510	CGG	WIZ	-	NULL		0.597	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15550606	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.088	T
ZC3H12B	340554	genome.wustl.edu	37	X	64717050	64717050	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:64717050A>G	ENST00000338957.4	+	2	714	c.647A>G	c.(646-648)cAa>cGa	p.Q216R	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.Q205R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	216							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAATACAACTTGCTGTG	0.388																																																	0													58.0	53.0	54.0					X																	64717050		1826	4076	5902	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.647A>G	X.37:g.64717050A>G	ENSP00000340839:p.Gln216Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.Q216R	ENST00000338957.4	37	c.647	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906100	0.72868	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.41065	1.01;1.01	5.5	5.5	0.81552	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	N	0.10707	0.03	0.48830	D	0.999717	D	0.53619	0.961	P	0.51974	0.686	T	0.13202	-1.0518	10	0.17832	T	0.49	-13.5681	13.3364	0.60520	1.0:0.0:0.0:0.0	.	205	Q5HYM0	ZC12B_HUMAN	R	216;205;152	ENSP00000340839:Q216R;ENSP00000408077:Q205R	ENSP00000218172:Q152R	Q	+	2	0	ZC3H12B	64633775	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.827000	0.92041	1.832000	0.53329	0.486000	0.48141	CAA	ZC3H12B	-	pfam_RNase_Zc3h12		0.388	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	A	XM_293334		64717050	+1	no_errors	ENST00000338957	ensembl	human	known	70_37	missense	SNP	1.000	G
ZC3H12B	340554	genome.wustl.edu	37	X	64717050	64717050	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:64717050A>G	ENST00000338957.4	+	2	714	c.647A>G	c.(646-648)cAa>cGa	p.Q216R	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.Q205R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	216							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAATACAACTTGCTGTG	0.388																																																	0													58.0	53.0	54.0					X																	64717050		1826	4076	5902	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.647A>G	X.37:g.64717050A>G	ENSP00000340839:p.Gln216Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.Q216R	ENST00000338957.4	37	c.647	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906100	0.72868	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.41065	1.01;1.01	5.5	5.5	0.81552	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	N	0.10707	0.03	0.48830	D	0.999717	D	0.53619	0.961	P	0.51974	0.686	T	0.13202	-1.0518	10	0.17832	T	0.49	-13.5681	13.3364	0.60520	1.0:0.0:0.0:0.0	.	205	Q5HYM0	ZC12B_HUMAN	R	216;205;152	ENSP00000340839:Q216R;ENSP00000408077:Q205R	ENSP00000218172:Q152R	Q	+	2	0	ZC3H12B	64633775	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.827000	0.92041	1.832000	0.53329	0.486000	0.48141	CAA	ZC3H12B	-	pfam_RNase_Zc3h12		0.388	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	A	XM_293334		64717050	+1	no_errors	ENST00000338957	ensembl	human	known	70_37	missense	SNP	1.000	G
ZDHHC11	79844	genome.wustl.edu	37	5	710914	710914	+	Intron	SNP	T	T	A	rs374638240		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr5:710914T>A	ENST00000424784.2	-	14	2007				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGTGCTCCCATTTCCGAATAC	0.512																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1236+9A>T	5.37:g.710914T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.512	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		T	NM_024786		710914	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.006	A
ZDHHC11	79844	genome.wustl.edu	37	5	710921	710921	+	Intron	SNP	A	A	G	rs370879508		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr5:710921A>G	ENST00000424784.2	-	14	2007				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCATTTCCGAATACTGTGCTC	0.517																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1236+2T>C	5.37:g.710921A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.517	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		A	NM_024786		710921	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.127	G
ZNF536	9745	genome.wustl.edu	37	19	30935510	30935510	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:30935510C>T	ENST00000355537.3	+	2	1188	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	347					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTTCCGCTGCGAGGTGTGCG	0.652																																																	0													95.0	105.0	102.0					19																	30935510		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1041C>T	19.37:g.30935510C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C347	ENST00000355537.3	37	c.1041	CCDS32984.1	19																																																																																			ZNF536	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30935510	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	silent	SNP	0.964	T
ZNF536	9745	genome.wustl.edu	37	19	30935510	30935510	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:30935510C>T	ENST00000355537.3	+	2	1188	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	347					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTTCCGCTGCGAGGTGTGCG	0.652																																																	0													95.0	105.0	102.0					19																	30935510		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1041C>T	19.37:g.30935510C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C347	ENST00000355537.3	37	c.1041	CCDS32984.1	19																																																																																			ZNF536	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30935510	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	silent	SNP	0.964	T
ZNF638	27332	genome.wustl.edu	37	2	71602547	71602547	+	Intron	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:71602547C>T	ENST00000409544.1	+	9	2895				ZNF638_ENST00000264447.4_Intron|ZNF638_ENST00000377802.2_Intron|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000410075.1_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638						regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ctttcatcctcatttgtaaga	0.413																																																	0																																										SO:0001627	intron_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2266-4805C>T	2.37:g.71602547C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	RNA	SNP	-	NULL	ENST00000409544.1	37	NULL	CCDS1917.1	2																																																																																			ZNF638	-	-		0.413	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	C	NM_014497		71602547	+1	no_errors	ENST00000434786	ensembl	human	known	70_37	rna	SNP	0.000	T
ZNF665	79788	genome.wustl.edu	37	19	53684675	53684676	+	Intron	INS	-	-	A			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:53684675_53684676insA	ENST00000600412.1	-	1	63				ZNF665_ENST00000598440.1_5'UTR|ZNF665_ENST00000396424.3_Intron			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ccttgtatcagaaaaaaaaaaa	0.54																																																	0																																										SO:0001627	intron_variant	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.52+11888->T	19.37:g.53684686_53684686dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5T8	RNA	INS	-	NULL	ENST00000600412.1	37	NULL		19																																																																																			ZNF665	-	-		0.540	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	-	NM_024733		53684676	-1	no_errors	ENST00000598440	ensembl	human	known	70_37	rna	INS	0.037:0.031	A
ZNF727	442319	genome.wustl.edu	37	7	63538653	63538653	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:63538653C>T	ENST00000550760.3	+	4	1405	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ACCTGCTCCTCAAACCTTATT	0.388																																																	0													28.0	26.0	26.0					7																	63538653		692	1591	2283	SO:0001583	missense	442319					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1226C>T	7.37:g.63538653C>T	ENSP00000447987:p.Ser409Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S409L	ENST00000550760.3	37	c.1226	CCDS55113.1	7	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453759	0.26161	.	.	ENSG00000257482	ENST00000550760	T	0.36520	1.25	0.926	0.926	0.19430	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50990	0.1648	M	0.83852	2.665	0.09310	N	1	D	0.62365	0.991	P	0.55011	0.766	T	0.39333	-0.9619	8	.	.	.	.	7.382	0.26862	0.0:1.0:0.0:0.0	.	409	A8MUV8	ZN727_HUMAN	L	409	ENSP00000447987:S409L	.	S	+	2	0	ZNF727	63176088	0.000000	0.05858	0.011000	0.14972	0.009000	0.06853	-0.937000	0.03942	0.420000	0.25954	0.420000	0.28162	TCA	ZNF727	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		C	NM_001159522		63538653	+1	no_errors	ENST00000550760	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF727	442319	genome.wustl.edu	37	7	63538653	63538653	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:63538653C>T	ENST00000550760.3	+	4	1405	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ACCTGCTCCTCAAACCTTATT	0.388																																																	0													28.0	26.0	26.0					7																	63538653		692	1591	2283	SO:0001583	missense	442319					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1226C>T	7.37:g.63538653C>T	ENSP00000447987:p.Ser409Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S409L	ENST00000550760.3	37	c.1226	CCDS55113.1	7	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453759	0.26161	.	.	ENSG00000257482	ENST00000550760	T	0.36520	1.25	0.926	0.926	0.19430	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50990	0.1648	M	0.83852	2.665	0.09310	N	1	D	0.62365	0.991	P	0.55011	0.766	T	0.39333	-0.9619	8	.	.	.	.	7.382	0.26862	0.0:1.0:0.0:0.0	.	409	A8MUV8	ZN727_HUMAN	L	409	ENSP00000447987:S409L	.	S	+	2	0	ZNF727	63176088	0.000000	0.05858	0.011000	0.14972	0.009000	0.06853	-0.937000	0.03942	0.420000	0.25954	0.420000	0.28162	TCA	ZNF727	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		C	NM_001159522		63538653	+1	no_errors	ENST00000550760	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF777	27153	genome.wustl.edu	37	7	149129368	149129368	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:149129368C>T	ENST00000247930.4	-	6	2318	c.1995G>A	c.(1993-1995)acG>acA	p.T665T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTCGGGGCACGTGTAGGGCC	0.612																																																	0													84.0	97.0	92.0					7																	149129368		2184	4293	6477	SO:0001819	synonymous_variant	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1995G>A	7.37:g.149129368C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2R2|Q8N659	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T665	ENST00000247930.4	37	c.1995	CCDS43675.1	7																																																																																			ZNF777	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	C	NM_015694		149129368	-1	no_errors	ENST00000247930	ensembl	human	known	70_37	silent	SNP	0.996	T
ZNF777	27153	genome.wustl.edu	37	7	149129368	149129368	+	Silent	SNP	C	C	T			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:149129368C>T	ENST00000247930.4	-	6	2318	c.1995G>A	c.(1993-1995)acG>acA	p.T665T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTCGGGGCACGTGTAGGGCC	0.612																																																	0													84.0	97.0	92.0					7																	149129368		2184	4293	6477	SO:0001819	synonymous_variant	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1995G>A	7.37:g.149129368C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2R2|Q8N659	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T665	ENST00000247930.4	37	c.1995	CCDS43675.1	7																																																																																			ZNF777	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	C	NM_015694		149129368	-1	no_errors	ENST00000247930	ensembl	human	known	70_37	silent	SNP	0.996	T
ZNF788	388507	genome.wustl.edu	37	19	12210589	12210589	+	Intron	SNP	A	A	G			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:12210589A>G	ENST00000339302.4	+	1	208				ZNF788_ENST00000397755.2_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_Intron|ZNF788_ENST00000596883.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						cctcagcgtcagtctctacat	0.542																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001627	intron_variant	388507			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.-430+7304A>G	19.37:g.12210589A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE4	RNA	SNP	-	NULL	ENST00000339302.4	37	NULL		19																																																																																			ZNF788	-	-		0.542	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ZNF788	HGNC	protein_coding		A	XM_930581		12210589	+1	no_errors	ENST00000397755	ensembl	human	known	70_37	rna	SNP	0.030	G
